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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675089G>A | c.523C>T | p.R175C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 P98fs TP53 R175C TP53 S215G | ovarian cancer | predicted - resistant | Adavosertib + Carboplatin | Case Reports/Case Series | Actionable | In a Phase II trial, Paraplatin (carboplatin) and Adavosertib (MK-1775) combination treatment resulted in disease progression in an ovarian cancer patient harboring TP53 P98fs, R175C, and S215G (PMID: 27998224; NCT01164995). | 27998224 |