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Gene RAD51C
Variant C135Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C C135Y lies within the Rad51b, Rad51d, and Xrcc3-interaction region of the Rad51c protein (UniProt.org). C135Y confers a loss of function to the Rad51c protein as indicated by decreased Rad51 foci formation in cell culture (PMID: 22451500), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, reduced homologous recombination activity in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C C135Y

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Transcript NM_058216.3
gDNA chr17:g.58695189G>A
cDNA c.404G>A
Protein p.C135Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722002 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_058216 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722001 chr17:g.58695189G>A c.404G>A p.C135Y 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 C135Y Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C C135Y sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112