Gene Variant Detail

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Gene TP53
Variant C238F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 C238F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238F results in increased Foxm1 expression in cultured cells and animal models, and inhibits activation of Ampk leading to decreased Foxo3a phosphorylation in cell culture (PMID: 29269868), and also results in decreased expression of the Tp53 targets Notch1, Btg2, and p21 in cell culture (PMID: 25634208), and therefore is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 C238F

TP53 mutant TP53 inact mut TP53 C238F

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Transcript NM_000546.5
gDNA chr17:g.7674250C>A
cDNA c.713G>T
Protein p.C238F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001276761.1 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276696 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276761 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276760 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_000546 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276696.1 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126118 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276695 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001276695.1 chr17:g.7673790C>A c.713G>T p.C238F RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674250C>A c.713G>T p.C238F RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 C238F fallopian tube cancer sensitive APR-246 + Cisplatin Preclinical - Patient cell culture Actionable In a preclinical study, the combination of APR-246 and Platinol (cisplatin) resulted in strong synergism, thereby reducing cell viability in patient derived fallopian tube cancer cells harboring TP53 C238F in culture (PMID: 27179933). 27179933