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Gene | CDKN2A |
Variant | R58* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A R58* results in a premature truncation of the Cdkn2a protein at amino acid 58 or 156 (UniProt.org). R58* results in loss of Cdk binding in an in vitro assay (PMID: 8668202), and therefore, is predicted to lead to a loss of Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A R58* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971187G>A |
cDNA | c.172C>T |
Protein | p.R58* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |