Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
Transcript | NM_000546.6 |
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_001276696.3 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001276761 | 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_001276760 | chr17:g.7673790C>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_001126114.2 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7674250C>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_001407262.1 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407271.1 | 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_001126113.3 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001276695.3 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001276761.1 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407269.1 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001126112.3 | 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_001407265.1 | 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_001276760.1 | chr17:g.7673790C>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_001276760.3 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407264.1 | 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_001126118.2 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001126112 | 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_001126118.1 | chr17:g.7673790C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
NM_001407263.1 | 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 | chr17:g.7674250C>A | c.713G>T | p.C238F | RefSeq | GRCh38/hg38 |
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 |