Cosmic » Mutation » Overview » VHL » p.R113fs*46 / c.336delC
Overview
This tab shows an overview of the mutation data [more details]
- Description:
- Mutation id:
- AA Mutation:
- CDS Mutation:
- NCBI 36:
- GRCH 37:
- Cancer Genome Browser:
- CDD:
- Ever confirmed somatic:
- VHL
- COSM18012
- p.R113fs*46 ( Deletion - Frameshift )
- c.336delC ( Deletion )
- Ensembl Contig View: 3: 10158867..10158867
- Ensembl Contig View: 3: 10183867..10183867
- COSMIC GBrowse: 3: 10183867..10183867
- NP_937799.1
- Yes
Tissue Distribution
This tab displays the distribution of mutated samples and tissue types.
[more details]
Samples
This tab displays a table of muated samples, with tissue, histology and zygosity information.
Publication information is also included, where available, with links to PUBMED.
[more details]
| Sample name | Gene Name | Transcript | Primary Tissue | Histology | Pubmed Id | Zygosity | Somatic Status |
|---|
Protein features
This tab displays a table of protein features
[more details]
| View | Identifier | Source | Feature | Start | End | Status | Score |
|---|---|---|---|---|---|---|---|
| P40337 | G3DSA:2.60.40.780 | G3DSA:2.60.40.780 | 63 | 152 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :G3DSA:2.60.40.780( 63- 152 ) | |||||||
| P40337 | Pfam-B_19918 | Pfam-B_19918 | 15 | 149 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :Pfam-B_19918( 15- 149 ) | |||||||
| P40337 | PD035809 | PD035809 | 68 | 209 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :PD035809( 68- 209 ) | |||||||
| P40337 | VHL | VHL | 58 | 213 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :VHL( 58- 213 ) | |||||||
| P40337 | PTHR15160:SF0 | PTHR15160:SF0 | 4 | 213 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :PTHR15160:SF0( 4- 213 ) | |||||||
| P40337 | PTHR15160 | PTHR15160 | 4 | 213 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :PTHR15160( 4- 213 ) | |||||||
| P40337 | SSF49468 | SSF49468 | 60 | 209 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :SSF49468( 60- 209 ) | |||||||
| P40337 | UniProt:curator | Von Hippel-Lindau disease tumor suppressor | 1 | 213 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :Von Hippel-Lindau disease tumor suppressor( 1- 213 ) | |||||||
| P40337 | UniProt:curator | Involved in binding to CCT complex | 100 | 155 | Overlap | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :Involved in binding to CCT complex( 100- 155 ) | |||||||
| P40337 | PubMed:15489334 | UNIPROTKB_P40337_VARIANT_110_110 | 110 | 110 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_110_110( 110- 110 ) | |||||||
| P40337 | UniProt:curator | UNIPROTKB_P40337_VARIANT_111_111 | 111 | 111 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_111_111( 111- 111 ) | |||||||
| P40337 | PubMed:8956040 | UNIPROTKB_P40337_VARIANT_111_111 | 111 | 111 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_111_111( 111- 111 ) | |||||||
| P40337 | PubMed:8956040 | UNIPROTKB_P40337_VARIANT_111_111 | 111 | 111 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_111_111( 111- 111 ) | |||||||
| P40337 | UniProt:curator | UNIPROTKB_P40337_VARIANT_112_112 | 112 | 112 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_112_112( 112- 112 ) | |||||||
| P40337 | PubMed:10533030 | UNIPROTKB_P40337_VARIANT_112_112 | 112 | 112 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_112_112( 112- 112 ) | |||||||
| P40337 | PubMed:8956040 | UNIPROTKB_P40337_VARIANT_114_114 | 114 | 114 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_114_114( 114- 114 ) | |||||||
| P40337 | UniProt:curator | UNIPROTKB_P40337_VARIANT_114_114 | 114 | 114 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_114_114( 114- 114 ) | |||||||
| P40337 | PubMed:8825918 | UNIPROTKB_P40337_VARIANT_114_114 | 114 | 114 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_114_114( 114- 114 ) | |||||||
| P40337 | PubMed:9829912 | UNIPROTKB_P40337_VARIANT_115_115 | 115 | 115 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_115_115( 115- 115 ) | |||||||
| P40337 | UniProt:curator | UNIPROTKB_P40337_VARIANT_115_115 | 115 | 115 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_115_115( 115- 115 ) | |||||||
| P40337 | PubMed:8956040 | UNIPROTKB_P40337_VARIANT_115_115 | 115 | 115 | Proximity | 100.00 | |
|
VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_115_115( 115- 115 ) | |||||||
| P40337 | PubMed:8730290 | UNIPROTKB_P40337_VARIANT_116_116 | 116 | 116 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_116_116( 116- 116 ) | |||||||
| P40337 | PubMed:8956040 | UNIPROTKB_P40337_VARIANT_117_117 | 117 | 117 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : Mutant Position : 113 Mutant label : p.R113fs*46 Feature Name :UNIPROTKB_P40337_VARIANT_117_117( 117- 117 ) | |||||||
References
This tab displays a table of references for the mutation
[more details]
| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
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