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Gene | TP53 |
Variant | V173L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 V173L lies within the DNA-binding domain of the Tp53 protein (PMID: 23246812). V173L results in aberrant Tp53 localization and decreased Tp53 target transactivation, and leads to increased cell growth and diminished Tp53 pro-apoptotic function in culture (PMID: 23246812). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 V173L TP53 mutant TP53 inact mut TP53 V173L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675095C>G |
cDNA | c.517G>C |
Protein | p.V173L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |