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Gene | CDKN2A |
Variant | D84G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A D84G lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84G confers a loss of function to the Cdkn2a protein as demonstrated by a loss of Cdk binding, defective kinase inhibition, and aberrant proliferation of cells in culture (PMID: 10491434). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A D84G |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971108T>C |
cDNA | c.251A>G |
Protein | p.D84G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |