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Gene | CDKN2A |
Variant | R80* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A R80* results in a premature truncation of the Cdkn2a protein at amino acid 80 of 156 (UniProt.org). R80* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A R80* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971121G>A |
cDNA | c.238C>T |
Protein | p.R80* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |