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Gene | TP53 |
Variant | C275Wfs*70 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C275Wfs*70 indicates a shift in the reading frame starting at amino acid 275 and terminating 70 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). C275Wfs*70 has not been biochemically characterized, but can be predicted to lead to a loss of Tp53 protein function due to the effects of C275* (PMID: 25584008). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 C275Wfs*70 TP53 mutant TP53 inact mut TP53 C275Wfs*70 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673795delA |
cDNA | c.825delT |
Protein | p.C275Wfs*70 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |