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Gene RAD51C
Variant G125V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C G125V lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). G125V confers a loss of function to the Rad51c protein as indicated by failure to rescue mitomycin C hypersensitivity, decreased Rad51 foci formation in cell culture (PMID: 20400964), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, reduced homologous recombination activity in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C G125V

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Transcript NM_058216.3
gDNA chr17:g.58695159G>T
cDNA c.374G>T
Protein p.G125V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
NM_002876.3 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
XM_006722001 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
NM_002876 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
NM_058216 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58695159G>T c.374G>T p.G125V RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C G125V Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C G125V sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112
RAD51C G125V Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C G125V sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112