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Gene | CDKN2A |
Variant | W110* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A W110* results in a premature truncation of the Cdkn2a protein at amino acid 110 of 156 (UniProt.org). W110* confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk binding and failure to restrict cell-cycle progression in culture (PMID: 9053859, PMID: 8668202). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A W110* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971030C>T |
cDNA | c.329G>A |
Protein | p.W110* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |