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Gene | TP53 |
Variant | A119Qfs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 A119Qfs*5 indicates a shift in the reading frame starting at amino acid 119 and terminating five residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). A119Qfs*5 has not been biochemically characterized however, due to the effects of truncation mutations downstream of A119 (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 A119Qfs*5 TP53 mutant TP53 inact mut TP53 A119Qfs*5 |
Transcript | NM_000546.5 |
gDNA | chr17:g.7676016_7676017dupGT |
cDNA | c.353_354dupCA |
Protein | p.A119Qfs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7676016_7676017dupGT | c.353_354dupCA | p.A119Qfs*5 | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7676016_7676017dupGT | c.353_354dupCA | p.A119Qfs*5 | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7676016_7676017dupGT | c.353_354dupCA | p.A119Qfs*5 | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7676016_7676017dupGT | c.353_354dupCA | p.A119Qfs*5 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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