RAD51C E49K
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 E49K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51C E49K lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E49K demonstrates a partial reduction in the ability to rescue survival of RAD51C-deficient cells upon treatment with mitomycin c, topoisomerase II and PARP inhibitors, and hydroxyurea, reduced Rad51 foci formation, defective replication fork protection, increased levels of single strand DNA, and increased chromosome breaks in culture (PMID: 36562461), and decreased survival in a high-throughput cell culture assay (PMID: 39299233), 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 E49K

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.58692788G>A
cDNA c.145G>A
Protein p.E49K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436505.1 chr17:g.58692788G>A c.145G>A p.E49K RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58692788G>A c.145G>A p.E49K RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58692788G>A c.145G>A p.E49K RefSeq GRCh38/hg38
NM_002876.4 chr17:g.58692788G>A c.145G>A p.E49K RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58692788G>A c.145G>A p.E49K 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 Protein Effect Treatment Approaches
RAD51C E49K loss of function - predicted Olaparib