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Gene | CDKN2A |
Variant | A68V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A A68V lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A68V confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A A68V |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971156G>A |
cDNA | c.203C>T |
Protein | p.A68V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |