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Gene | CDKN2A |
Variant | R87L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A R87L lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R87L confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk6 kinase inhibition and a reduction in the ability to induce cell cycle arrest in culture (PMID: 10491434). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A R87L |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971099C>A |
cDNA | c.260G>T |
Protein | p.R87L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |