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Gene | CDKN2A |
Variant | N71S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A N71S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71S confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, reduced binding to Cdk4 and Cdk6, and a reduced ability to cause cell cycle arrest in cell culture (PMID: 10491434, PMID: 20340136). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A N71S |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971147T>C |
cDNA | c.212A>G |
Protein | p.N71S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |