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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 the Rad51c protein as demonstrated by impairment of 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_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
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
NM_058216 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722001 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_006722002.4 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

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")

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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