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
NM_058216.3 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_006722001 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_006722002.4 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_006722001.4 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_006722002 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

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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries