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Gene | CDKN2A |
Variant | D84Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A D84Y lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84Y confers a loss of function to the Cdk2na protein as demonstrated by an inability to bind to Cdk4 and Cdk6 (PMID: 10498896). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A D84Y |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971109C>A |
cDNA | c.250G>T |
Protein | p.D84Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |