Cosmic » Mutation » Overview » CDKN2A »p.L63fs*75 / c.187_211del25
This tab shows an overview of the mutation data
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This tab displays the distribution of mutated samples and tissue types.
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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.
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| Sample name | Gene name | Transcript | Primary Tissue | Histology | Pubmed ID | Zygosity | Somatic Status |
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This tab displays a table of protein features
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| 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 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3( 1- 156 ) | |||||||
| D3DRK1 | UniProt:curator | ANK 2 | 44 | 72 | Overlap | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :ANK 2( 44- 72 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VAR_SEQ_52_116 | 52 | 116 | Overlap | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VAR_SEQ_52_116( 52- 116 ) | |||||||
| D3DRK1 | PubMed:10874641 | UNIPROTKB_P42771_VARIANT_59_59 | 59 | 59 | Proximity | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VARIANT_59_59( 59- 59 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_60_60 | 60 | 60 | Proximity | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VARIANT_60_60( 60- 60 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_60_60 | 60 | 60 | Proximity | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VARIANT_60_60( 60- 60 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_VARIANT_62_62 | 62 | 62 | Proximity | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VARIANT_62_62( 62- 62 ) | |||||||
| D3DRK1 | PubMed:8060323 | UNIPROTKB_P42771_VARIANT_66_66 | 66 | 66 | Proximity | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VARIANT_66_66( 66- 66 ) | |||||||
| D3DRK1 | PubMed:19260062 | UNIPROTKB_P42771_VARIANT_67_67 | 67 | 67 | Proximity | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_VARIANT_67_67( 67- 67 ) | |||||||
| D3DRK1 | UniProt:curator | UNIPROTKB_P42771_HELIX_57_64 | 57 | 64 | Overlap | 100.00 | |
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CDKN2A MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
D3DRK1 MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA 60
CDKN2A ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
D3DRK1 ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE 120
CDKN2A LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
D3DRK1 LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
More detailsWildtype Residue : L Mutant Position : 63 Mutant label : p.L63fs*75 Feature Name :UNIPROTKB_P42771_HELIX_57_64( 57- 64 ) | |||||||
This tab displays a table of references for the mutation
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| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
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