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@jax.org

Gene RAD51D
Variant S257_R259delinsK
Impact List indel
Protein Effect no effect
Gene Variant Descriptions RAD51D S257_R259delinsK results in a deletion of three amino acids combined with the insertion of a lysine (K) in the same location (UniProt.org). S257_R259delinsK, described as a reversion mutation, has no effect on Rad51d protein function, as demonstrated by restoration of homologous recombination function in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062).
Associated Drug Resistance Y

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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_002878.3
gDNA chr17:g.35101327_35101335delinsCTT
cDNA c.769_777delinsAAG
Protein p.S257_R259delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878 chr17:g.35101327_35101335delinsCTT c.769_777delinsAAG p.S257_R259delinsK RefSeq GRCh38/hg38
NM_002878.3 chr17:g.35101327_35101335delinsCTT c.769_777delinsAAG p.S257_R259delinsK RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
RAD51D S257_R259delinsK RAD51D G258Sfs*50 ovarian carcinoma predicted - resistant Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51D G258Sfs*50 germline mutation developed resistance to Rubraca (rucaparib) after acquisition of RAD51D S257_R259delinsK (PMID: 28588062). 28588062
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
RAD51D S257_R259delinsK no effect
RAD51D S257_R259delinsK RAD51D G258Sfs*50