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Gene | CDKN2A |
Variant | D14E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CDKN2A D14E lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14E results in Cdk4/6 binding and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibits Cdk6 activity similar to wild-type protein in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A D14E |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974786G>C |
cDNA | c.42C>G |
Protein | p.D14E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |