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Gene | CDKN2A |
Variant | N42K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A N42K does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42K has been identified in the scientific literature (PMID: 31741767), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A N42K |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974702A>C |
cDNA | c.126T>G |
Protein | p.N42K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |