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Gene | CDKN2A |
Variant | E120* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A E120* results in a premature truncation of the Cdkn2a protein at amino acid 120 of 156 (UniProt.org). E120* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a loss of Cdk binding in an in vitro assay (PMID: 8668202). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A E120* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971001C>A |
cDNA | c.358G>T |
Protein | p.E120* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |