Gene Detail

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Gene Symbol CDKN2A
Synonyms ARF | CDK4I | CDKN2 | CMM2 | INK4 | INK4A | MLM | MTS-1 | MTS1 | P14 | P14ARF | P16 | P16-INK4A | P16INK4 | P16INK4A | P19 | P19ARF | TP16
Gene Description CDKN2A, cyclin-dependent kinase inhibitor 2A, is a tumor suppressor (PMID: 30562755) that encodes p16 and p14ARF from alternate reading frames, which function to inhibit Cdk4 and Cdk6 and regulate Tp53 activity to promote cell-cycle arrest (PMID: 23875803, PMID: 17055429, PMID: 27428416). CDKN2A germline mutations are associated with familial atypical multiple mole melanoma and somatic mutations are highest in pancreatic, HNSCC, NSCLC, and melanoma (PMID: 27283171).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function CDNK2A inact mut indicates that this variant results in a loss of function of the Cdnk2a protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CDKN2A mutant indicates an unspecified mutation in the CDKN2A gene.
rearrange unknown unknown CDKN2A rearrange indicates an unspecified rearrangement of the CDKN2A gene.