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Gene | TP53 |
Variant | R273W |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R273W is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273W is predicted to confer a loss of function to the Tp53 protein, as demonstrated by decreased gene transcription in response to Tgf-beta treatment in cell culture (PMID: 17875924). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R273X TP53 R273W TP53 mutant TP53 inact mut TP53 R273W |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673801_7673803delCGTinsTGG |
cDNA | c.817_819delCGTinsTGG |
Protein | p.R273W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |