RAD51C R193*
Gene Variant Detail

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Gene RAD51C
Variant R193*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions RAD51C R193* results in a premature truncation of the Rad51c protein at amino acid 193 of 376 (UniProt.org). R193* confers a loss of function to Rad51c as demonstrated by decreased Rad51 foci in response to DNA damage and decreased homologous recombination repair in cultured cells and reduced interaction with Xrcc3 and Rad51b in yeast assays (PMID: 28588062).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C R193*

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Transcript NM_058216.3
gDNA chr17:g.58703201C>T
cDNA c.577C>T
Protein p.R193*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
NM_058216 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38

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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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  • 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 R193* ovarian carcinoma predicted - sensitive Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51C R193* germline mutation demonstrated a partial response when treated with Rubraca (rucaparib) (PMID: 28588062). 28588062
RAD51C R193* ovarian cancer sensitive Niraparib + TNG348 Preclinical - Pdx Actionable In a preclinical study, treatment with the combination of TNG348 and Zejula (niraparib) resulted in greater inhibition of tumor growth than either agent alone in a patient-derived xenograft (PDX) model of ovarian cancer harboring RAD51C R193* (PMID: 39886906). 39886906