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Gene | CDKN2A |
Variant | Y44* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A Y44* results in a premature truncation of the Cdkn2a protein at amino acid 44 of 156 (UniProt.org). Y44* has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A Y44* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974696G>T |
cDNA | c.132C>A |
Protein | p.Y44* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |