Gene Variant Detail

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Gene RAD51C
Variant R193L
Impact List missense
Protein Effect no effect
Gene Variant Descriptions RAD51C R193L does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193L, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062).
Associated Drug Resistance Y

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Transcript NM_058216.2
gDNA chr17:g.58703202G>T
cDNA c.578G>T
Protein p.R193L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216 chr17:g.58703202G>T c.578G>T p.R193L RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703202G>T c.578G>T p.R193L RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703202G>T c.578G>T p.R193L RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703202G>T c.578G>T p.R193L RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703202G>T c.578G>T p.R193L RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703202G>T c.578G>T p.R193L RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C R193L ovarian carcinoma resistant Olaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Lynparza (olaparib) in culture (PMID: 28588062). 28588062
RAD51C R193L ovarian carcinoma resistant Talazoparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Talazoparib (BMN-673) in culture (PMID: 28588062). 28588062
RAD51C R193L ovarian carcinoma resistant Rucaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Rubraca (rucaparib) in culture (PMID: 28588062). 28588062
RAD51C R193L ovarian carcinoma resistant Niraparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Zejula (niraparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W ovarian carcinoma predicted - resistant Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51C R193* germline mutation developed resistance to Rubraca (rucaparib) after acquisition of RAD51C R193W, RAD51C H192_R193delinsGG, and RAD51C R193L (PMID: 28588062). 28588062
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
RAD51C R193L no effect
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W