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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 |
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_001126113.2 | 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_001407264.1 | 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_001126114.3 | 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_001407262.1 | 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_001407268.1 | 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_001126112.2 | chr17:g.7676038delG | c.331delC | p.L111Wfs*12 | RefSeq | GRCh38/hg38 |
NM_001126112.3 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 L111Wfs*12 | loss of function | p53 Activator p53 Gene Therapy |