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TP53 L111Wfs*12 - Gene Variant Detail

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Gene TP53
Variant L111Wfs*12
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions TP53 L111Wfs*12 indicates a shift in the reading frame starting at amino acid 111 and terminating 12 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). L111Wfs*12 confers a loss of function on the Tp53 protein, as indicated by minimal transcriptional transactivation activity in a reporter assay, altered subcellular localization, and failure to induce apoptosis in cultured cells (PMID: 31081129).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 L111fs TP53 L111Wfs*12

TP53 mutant TP53 inact mut TP53 L111fs TP53 L111Wfs*12

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Transcript NM_000546.6
gDNA chr17:g.7676038delG
cDNA c.331delC
Protein p.L111Wfs*12
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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