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Gene TP53
Variant A138V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 A138V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A138V fails to both inhibit the interaction between Myb and Hsf3 in cultured cells and transactivate Myb in a reporter assay (PMID: 10747903), results in decreased binding to Tlr3, reduced transactivation of Tlr3 and p21 in a reporter assay, and decreased cytokine induction and failure to increase apoptosis in response to a double-strand RNA synthetic agonist in culture (PMID: 27533082), and results in deceased transactivation of Cep55 in a reporter assay (PMID: 22184120).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 A138V

TP53 mutant TP53 inact mut TP53 A138V

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Transcript NM_000546.6
gDNA chr17:g.7675199G>A
cDNA c.413C>T
Protein p.A138V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675199G>A c.413C>T p.A138V RefSeq GRCh38/hg38

Filtering

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