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Gene RAD51C
Variant D348V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C D348V does not lie within any known functional domains of the Rad51c protein (UniProt.org). D348V results in reduced homology-directed DNA repair activity in culture (PMID: 37253112), 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 D348V

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Transcript NM_058216.3
gDNA chr17:g.58734134A>T
cDNA c.1043A>T
Protein p.D348V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.2 chr17:g.58734134A>T c.1043A>T p.D348V RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58734134A>T c.1043A>T p.D348V 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C D348V Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C D348V sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112
RAD51C D348V Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C D348V sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112