Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene RAD51C
Variant R312W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C R312W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R312W retains binding with Rad51b and Xrcc3, however, results in a loss of Rad51c function as indicated by failure to rescue mitomycin C hypersensitivity and cell cycle arrest (PMID: 28829762), defects in homologous recombination repair (PMID: 28829762, PMID: 36099300), 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 R312W

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.

Transcript NM_058216.3
gDNA chr17:g.58724069C>T
cDNA c.934C>T
Protein p.R312W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002 chr17:g.58732513_58732515delAGAinsTGG c.934_936delAGAinsTGG p.R312W RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58732513_58732515delAGAinsTGG c.934_936delAGAinsTGG p.R312W RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58724069C>T c.934C>T p.R312W RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58724069C>T c.934C>T p.R312W RefSeq GRCh38/hg38
XM_006722001 chr17:g.58724069C>T c.934C>T p.R312W RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58732513_58732515delAGAinsTGG c.934_936delAGAinsTGG p.R312W RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58724069C>T c.934C>T p.R312W RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58724069C>T c.934C>T p.R312W RefSeq GRCh38/hg38
NM_058216 chr17:g.58724069C>T c.934C>T p.R312W 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 R312W Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C R312W sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112
RAD51C R312W Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, the expression of RAD51C R312W sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). 37253112