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Gene | TP53 |
Variant | V157F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 V157F lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). V157F results in decreased DNA binding and activation of Tp53 targets, and also confers a gain of function to Tp53, resulting in aberrant gene regulation, including suppression of uPA, in cell culture (PMID: 15077194, PMID: 16778209, PMID: 22710932, PMID: 31067569). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 V157F TP53 mutant TP53 inact mut TP53 V157F |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675143C>A |
cDNA | c.469G>T |
Protein | p.V157F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |