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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

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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

Filtering

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