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
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.3 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7676038delG c.331delC p.L111Wfs*12 RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References