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Gene | TP53 |
Variant | R110Vfs*13 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R110Vfs*13 indicates a shift in the reading frame starting at amino acid 110 and terminating 13 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). R110Vfs*13 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R110 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 R110Vfs*13 TP53 mutant TP53 inact mut TP53 R110Vfs*13 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676042delG |
cDNA | c.328delC |
Protein | p.R110Vfs*13 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |