RAD51C L134S
Gene Variant Detail

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Gene RAD51C
Variant L134S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C L134S lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). L134S demonstrates a partial reduction in the ability to rescue survival of RAD51C-deficient cells upon mitomycin c and PARP inhibitors treatment, reduced Rad51 foci formation in cell culture, a modest increase in sensitivity to topoisomerase II inhibitors and hydroxyurea, defective replication fork protection, and increased chromosome breaks in patient cells and in cultured cells (PMID: 36562461), and decreased survival in a high-throughput cell culture assay (PMID: 39299233), 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 L134S

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Transcript NM_058216.3
gDNA chr17:g.58695186T>C
cDNA c.401T>C
Protein p.L134S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58695186T>C c.401T>C p.L134S RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695186T>C c.401T>C p.L134S RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58695186T>C c.401T>C p.L134S RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58695186T>C c.401T>C p.L134S RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58695186T>C c.401T>C p.L134S 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C L134S Advanced Solid Tumor predicted - sensitive Talazoparib Preclinical - Cell culture Actionable In a preclinical study, Talzenna (talazoparib) moderately inhibited proliferation of cells expressing RAD51C L134S in culture (PMID: 36562461). 36562461