RAD51C L238R
Gene Variant Detail

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Gene RAD51C
Variant L238R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C L238R does not lie within any known functional domains of the Rad51c protein (UniProt.org). L238R retains replication fork reversal similar to wild-type Rad51c, but confers a loss of function to Rad51c as demonstrated by reduced interaction with Rad51d in a yeast assay, decreased protein levels, defective homology-directed DNA repair activity, failure to form stable BCDX2 and CX3 complexes, failure to rescue hypersensitivity to cisplatin and PARP inhibitors, and impaired growth in cultured cells (PMID: 40670332), and results in decreased survival in a high-throughput cell culture assay (PMID: 39299233).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C L238R

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Transcript NM_058216.3
gDNA chr17:g.58709866T>G
cDNA c.713T>G
Protein p.L238R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001.5 chr17:g.58709866T>G c.713T>G p.L238R RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58709866T>G c.713T>G p.L238R RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58709866T>G c.713T>G p.L238R 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 L238R Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) decreased viability in cells expressing RAD51C L238R in culture (PMID: 40670332). 40670332
RAD51C L238R Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) decreased viability in cells expressing RAD51C L238R in culture (PMID: 40670332). 40670332