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Gene | RAD51C |
Variant | D348V |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C D348V does not lie within any known functional domains of the Rad51c protein (UniProt.org). D348V results in reduced homology-directed DNA repair activity in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C D348V |
Transcript | NM_058216.3 |
gDNA | chr17:g.58734134A>T |
cDNA | c.1043A>T |
Protein | p.D348V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216.3 | chr17:g.58734134A>T | c.1043A>T | p.D348V | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58734134A>T | c.1043A>T | p.D348V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C D348V | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C D348V sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C D348V | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C D348V sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |