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 C135Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C C135Y lies within the Rad51b, Rad51d, and Xrcc3-interaction region of the Rad51c protein (UniProt.org). C135Y confers a loss of function to the Rad51c protein as indicated by decreased Rad51 foci formation in cell culture (PMID: 22451500), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, reduced homologous recombination activity in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C C135Y

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.58695189G>A
cDNA c.404G>A
Protein p.C135Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436505.1 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722002 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_058216 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722001 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58695189G>A c.404G>A p.C135Y RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58695189G>A c.404G>A p.C135Y 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 C135Y loss of function Olaparib