Cosmic » Mutation » Overview » CDKN2A » p.R80* / c.237_238CC>TT
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:
- Homologene:
- Ever confirmed somatic:
- CDKN2A
- COSM13524
- p.R80* ( Substitution - Nonsense )
- c.237_238CC>TT ( Complex )
- Ensembl Contig View: 9: 21961120..21961121
- Ensembl Contig View: 9: 21971120..21971121
- COSMIC GBrowse: 9: 21971120..21971121
- NP_000068.1
- 55430 , click here to look the multiple sequence alignment.
- 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 |
|---|---|---|---|---|---|---|---|
| D3DRK1 | UniProt:curator | Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 | 1 | 156 | Overlap | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3( 1- 156 ) | |||||||
| D3DRK1 | UniProt:curator | ANK 3 | 77 | 106 | Overlap | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :ANK 3( 77- 106 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VAR_SEQ_52_116 | 52 | 116 | Overlap | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VAR_SEQ_52_116( 52- 116 ) | |||||||
| D3DRK1 | PubMed:19260062 | UNIPROTKB_P42771_VARIANT_77_77 | 77 | 77 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_77_77( 77- 77 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_80_80 | 80 | 80 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_80_80( 80- 80 ) | |||||||
| D3DRK1 | PubMed:19260062 | UNIPROTKB_P42771_VARIANT_80_80 | 80 | 80 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_80_80( 80- 80 ) | |||||||
| D3DRK1 | PubMed:7647780 | UNIPROTKB_P42771_VARIANT_81_81 | 81 | 81 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_81_81( 81- 81 ) | |||||||
| D3DRK1 | PubMed:19260062 | UNIPROTKB_P42771_VARIANT_81_81 | 81 | 81 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_81_81( 81- 81 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_83_83 | 83 | 83 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_83_83( 83- 83 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_83_83 | 83 | 83 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_83_83( 83- 83 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_83_83 | 83 | 83 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_83_83( 83- 83 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_84_84 | 84 | 84 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_84_84( 84- 84 ) | |||||||
| D3DRK1 | PubMed:8060323 | UNIPROTKB_P42771_VARIANT_84_84 | 84 | 84 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_84_84( 84- 84 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_84_84 | 84 | 84 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_84_84( 84- 84 ) | |||||||
| D3DRK1 | PubMed:10874641 | UNIPROTKB_P42771_VARIANT_84_84 | 84 | 84 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : R Mutant Position : 80 Mutant label : p.R80* Feature Name :UNIPROTKB_P42771_VARIANT_84_84( 84- 84 ) | |||||||
References
This tab displays a table of references for the mutation
[more details]
| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
|---|