RAD51C C135Y
Gene Variant Detail

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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, PMID: 36099300), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, decreased ATPase activity in an in vitro assay, 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
XM_006722001.5 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
NM_058216.3 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
XM_006722001.4 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_006722002.5 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_006722001 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

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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries