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 R249C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions RAD51C R249C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R249C binds to Rad51b, Rad51d, and Xrcc3 at similar levels as wild-type protein in a yeast assay, demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C R249C

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.58709898C>T
cDNA c.745C>T
Protein p.R249C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002.4 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_017024914.1 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_017024916.1 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_006722002 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_017024915 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
NM_058216 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_017024915.1 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_017024917.1 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_017024916 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_006722001 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_017024914 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58709898C>T c.745C>T p.R249C RefSeq GRCh38/hg38
XM_017024918.2 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_017024917 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
XM_017024918 chr17:g.58734187_58734189delCGGinsTGT c.745_747delCGGinsTGT p.R249C RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58709898C>T c.745C>T p.R249C 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 R249C no effect - predicted