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Gene RAD51C
Variant R12W
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C R12W lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). R12W retains binding of Rad51d but results in decreased interaction with Rad51b and Xrcc3 in a yeast assay and reduced homologous recombination activity in culture (PMID: 36099300), and therefore, is predicted to lead to a loss of Rad51c protein function.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C R12W

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Transcript NM_058216.3
gDNA chr17:g.58692677C>T
cDNA c.34C>T
Protein p.R12W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58692677C>T c.34C>T p.R12W RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58692677C>T c.34C>T p.R12W RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58692677C>T c.34C>T p.R12W RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58692677C>T c.34C>T p.R12W RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58692677C>T c.34C>T p.R12W RefSeq GRCh38/hg38

Filtering

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  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
RAD51C R12W loss of function - predicted Olaparib