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Gene | CDKN2A |
Variant | Y44Lfs*76 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A Y44Lfs*76 indicates a shift in the reading frame starting at amino acid 44 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). Y44Lfs*76 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 Y44fs CDKN2A Y44Lfs*76 |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974699dupA |
cDNA | c.130dupT |
Protein | p.Y44Lfs*76 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |