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Gene RAD51C
Variant G130R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C G130R lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G130R results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased colony formation, reduced Rad51 foci formation, and decreased 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 G130R

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Transcript NM_058216.3
gDNA chr17:g.58695173G>A
cDNA c.388G>A
Protein p.G130R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
NM_002876.3 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58695173G>A c.388G>A p.G130R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C G130R Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C G130R sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112
RAD51C G130R Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C G130R sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112
RAD51C G130R osteosarcoma sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C G130R sensitized RAD51C-null osteosarcoma cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell survival (PMID: 37253112). 37253112