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|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).|
|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.|