Cosmic » Mutation » Overview » CDKN2A » p.M9fs*1 / c.24_25insTG
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
- COSM13824
- p.M9fs*1 ( Insertion - Frameshift )
- c.24_25insTG ( Insertion )
- Ensembl Contig View: 9: 21964802..21964803
- Ensembl Contig View: 9: 21974802..21974803
- COSMIC GBrowse: 9: 21974802..21974803
- NP_000068.1
- 55430 , click here to look the multiple sequence alignment.
- No
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 : Mutant Position : 9 Mutant label : p.M9fs*1 Feature Name :Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3( 1- 156 ) | |||||||
| D3DRK1 | PubMed:12529334 | Phosphoserine | 7 | 7 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : Mutant Position : 9 Mutant label : p.M9fs*1 Feature Name :Phosphoserine( 7- 7 ) | |||||||
| D3DRK1 | PubMed:12529334 | Phosphoserine | 8 | 8 | Proximity | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : Mutant Position : 9 Mutant label : p.M9fs*1 Feature Name :Phosphoserine( 8- 8 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VAR_SEQ_1_51 | 1 | 51 | Overlap | 100.00 | |
|
CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : Mutant Position : 9 Mutant label : p.M9fs*1 Feature Name :UNIPROTKB_P42771_VAR_SEQ_1_51( 1- 51 ) | |||||||
References
This tab displays a table of references for the mutation
[more details]
| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
|---|