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CDKN2A S43Ifs*76 - Gene Variant Detail

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Gene CDKN2A
Variant S43Ifs*76
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A S43Ifs*76 indicates a shift in the reading frame starting at amino acid 43 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). S43Ifs*76 has not been characterized, however, due to the effects of other truncation mutations downstream of S43 (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 S43fs CDKN2A S43Ifs*76

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Transcript NM_000077.5
gDNA chr9:g.21974699_21974700delAC
cDNA c.128_129delGT
Protein p.S43Ifs*76
Source Database RefSeq
Genome Build GRCh38/hg38

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