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Gene | RAD51C |
Variant | G162E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C G162E does not lie within any known functional domains of the Rad51c protein (UniProt.org). G162E retains binding with Xrcc3 in a yeast assay and rescues survival of Rad51c-null cells in culture, however, results in decreased interaction with Rad51b and Rad51d in a yeast assay and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C G162E |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696773G>A |
cDNA | c.485G>A |
Protein | p.G162E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.4 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58696773G>A | c.485G>A | p.G162E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C G162E | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G162E sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C G162E | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G162E sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |