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Gene | TP53 |
Variant | R175C |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | TP53 R175C is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R175C retains wild-type Tp53 function in apoptosis and cell cycle assays (PMID: 9632751, PMID: 24665023). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R175X TP53 R175C |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675089G>A |
cDNA | c.523C>T |
Protein | p.R175C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |