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Gene | TP53 |
Variant | V157D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 V157D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V157D results in loss of transactivation of the p21 promoter in the presence of KRAS G12D, and leads to increased cell proliferation and colony formation in culture and decreased apoptosis upon UV irradiation in a Drosophila model, but both with greater effects when co-expressed with PMS2 R20Q (PMID: 23981578), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 V157D TP53 mutant TP53 inact mut TP53 V157D |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675142A>T |
cDNA | c.470T>A |
Protein | p.V157D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.3 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675142A>T | c.470T>A | p.V157D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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