RAD51C V239G
Gene Variant Detail

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Gene RAD51C
Variant V239G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C V239G does not lie within any known functional domains of the Rad51c protein (UniProt.org). V239G retains functional homology-directed DNA repair activity in culture, maintains the ability to form stable complexes with Xrcc3 in in vitro assays, and rescues viability and cisplatin hypersensitivity in Rad51c-deficient cells, but forms a complex with Rad51b, Rad51d and Xrcc2 that binds DNA but demonstrates partially reduced ATPase activity and defective Rad51 filament formation in in vitro assays, and impaired replication fork reversal leading to accumulation of ssDNA breaks in cell culture, and results in reduced interaction with Rad51d in yeast assays (PMID: 40670332), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C V239G

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Transcript NM_058216.3
gDNA chr17:g.58709869T>G
cDNA c.716T>G
Protein p.V239G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58709869T>G c.716T>G p.V239G RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58709869T>G c.716T>G p.V239G RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58709869T>G c.716T>G p.V239G 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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  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C V239G Advanced Solid Tumor no benefit Cisplatin Preclinical - Cell culture Actionable In a preclinical study, cells expressing RAD51C V239G were not sensitive to Platinol (cisplatin) in culture (PMID: 40670332). 40670332