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 R366Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C R366Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R366Q results in Chk2 activation and Rad51 foci formation similar to wild-type in cell culture (PMID: 20400964) and interaction with Rad51b, Rad51d, and Xrcc3 similar to wild-type in yeast assays (PMID: 36099300), but leads to decreased nuclear localization and partial rescue of mitomycin C hypersensitivity in chicken cells (PMID: 29158291), moderately increased chromosomal aberrations, reduced G2/M accumulation and DNA synthesis in cultured cells, and a partial homologous recombination defect in a reporter assay (PMID: 22167183) and in cultured cells (PMID: 25292178), and therefore, is predicted to lead to a loss of Rad51c protein function.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C R366Q

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.58734188G>A
cDNA c.1097G>A
Protein p.R366Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.2 chr17:g.58734188G>A c.1097G>A p.R366Q RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58734188G>A c.1097G>A p.R366Q RefSeq GRCh38/hg38
NM_058216 chr17:g.58734188G>A c.1097G>A p.R366Q 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