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Gene | RAD51C |
Variant | V140E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C V140E does not lie within any known functional domains of the Rad51c protein (UniProt.org). V140E results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C V140E |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696707T>A |
cDNA | c.419T>A |
Protein | p.V140E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.4 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C V140E | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C V140E sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C V140E | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C V140E sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |