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 RAD51D
Variant S207L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51D S207L lies within the Walker B motif of the Rad51d protein (PMID: 28646019). S207L results in impaired homologous recombination, as demonstrated by disruption of the interaction between Rad51d and Xrcc2 and decreased Rad50 accumulation in response to DNA damage in cultured cells (PMID: 28646019).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D S207L

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_002878.4
gDNA chr17:g.35103501G>A
cDNA c.620C>T
Protein p.S207L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878 chr17:g.35103501G>A c.620C>T p.S207L RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35103501G>A c.620C>T p.S207L RefSeq GRCh38/hg38
NM_002878.3 chr17:g.35103501G>A c.620C>T p.S207L 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
RAD51D S207L loss of function Olaparib