RAD51C H192_R193delinsGG
Gene Variant Detail

Request Content

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 H192_R193delinsGG
Impact List indel
Protein Effect no effect
Gene Variant Descriptions RAD51C H192_R193delinsGG results in a deletion of two amino acids in the Rad51c protein combined with the insertion of two new amino acids in the same location (UniProt.org). H192_R193delinsGG, 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 H192_R193delinsGG

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.58703198_58703203delinsGGTGGT
cDNA c.574_579delinsGGTGGT
Protein p.H192_R193delinsGG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG 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 H192_R193delinsGG ovarian carcinoma resistant Rucaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Rubraca (rucaparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Niraparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Zejula (niraparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Olaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Lynparza (olaparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Talazoparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Talzenna (talazoparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Veliparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Veliparib (ABT-888) in culture (PMID: 28588062). 28588062