RAD51C A87E
Gene Variant Detail

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Gene RAD51C
Variant A87E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C A87E lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region of the Rad51c protein (UniProt.org). A87E confers a loss of function to Rad51c as demonstrated by impaired ability to rescue survival of RAD51C-deficient cells upon treatment with mitomycin c, topoisomerase II and PARP inhibitors, and hydroxyurea, increased levels of single strand DNA, reduced Rad51 foci formation, defective replication fork protection, and increased chromosome breaks in culture (PMID: 36562461), and decreased survival in a high-throughput cell culture assay (PMID: 39299233).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C A87E

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Transcript NM_058216.3
gDNA chr17:g.58695045C>A
cDNA c.260C>A
Protein p.A87E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002.5 chr17:g.58695045C>A c.260C>A p.A87E RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58695045C>A c.260C>A p.A87E RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58695045C>A c.260C>A p.A87E RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695045C>A c.260C>A p.A87E RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58695045C>A c.260C>A p.A87E 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
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Molecular Profile Protein Effect Treatment Approaches
RAD51C A87E loss of function Olaparib