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Gene RAD51C
Variant R214C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C R214C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R214C results in decreased interaction with Xrcc3 and Rad51b in a yeast-two-hybrid assay in one study (PMID: 21980511), but in another study binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300) and demonstrates homology-directed repair activity in cultured cells (PMID: 37253112), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C R214C

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Transcript NM_058216.3
gDNA chr17:g.58703264C>T
cDNA c.640C>T
Protein p.R214C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703264C>T c.640C>T p.R214C RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C mutant ovarian serous carcinoma predicted - sensitive Olaparib Case Reports/Case Series Actionable In a clinical case study, Lynparza (olaparib) treatment resulted in a complete response with treatment ongoing at 14 months in a patient with relapsed, metastatic high grade serous ovarian carcinoma harboring RAD51C mutations (PMID: 36176748). 36176748
RAD51C mutant breast cancer not applicable N/A Guideline Risk Factor Germline RAD51C mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
RAD51C mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...