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 R193W
Impact List missense
Protein Effect no effect
Gene Variant Descriptions RAD51C R193W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193W, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062).
Associated Drug Resistance Y
Category Variants Paths

RAD51C mutant RAD51C R193W

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.58703201_58703203delCGAinsTGG
cDNA c.577_579delCGAinsTGG
Protein p.R193W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002.5 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
NM_058216 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703201_58703203delCGAinsTGG c.577_579delCGAinsTGG p.R193W 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 R193W ovarian carcinoma resistant Talazoparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193W demonstrated resistance to Talzenna (talazoparib) in culture (PMID: 28588062). 28588062
RAD51C R193W ovarian carcinoma resistant Niraparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193W demonstrated resistance to Zejula (niraparib) in culture (PMID: 28588062). 28588062
RAD51C R193W ovarian carcinoma resistant Olaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193W demonstrated resistance to Lynparza (olaparib) in culture (PMID: 28588062). 28588062
RAD51C R193W ovarian carcinoma resistant Rucaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193W demonstrated resistance to Rubraca (rucaparib) in culture (PMID: 28588062). 28588062
RAD51C R193W ovarian carcinoma resistant Veliparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C R193W demonstrated resistance to Veliparib (ABT-888) in culture (PMID: 28588062). 28588062