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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 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674250C>A |
cDNA | c.713G>T |
Protein | p.C238F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |