RAD51D S257_R259delinsK
Gene Variant Detail

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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
Category Variants Paths

RAD51D mutant RAD51D S257_R259delinsK

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Transcript NM_002878.4
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_002878.4 chr17:g.35101327_35101335delinsCTT c.769_777delinsAAG p.S257_R259delinsK RefSeq GRCh38/hg38
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 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 S257_R259delinsK no effect
RAD51D S257_R259delinsK RAD51D G258Sfs*50