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 G258Sfs*50
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions RAD51D G258Sfs*50 indicates a shift in the reading frame starting at amino acid 258 and terminating 50 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). G258Sfs*50 has been identified in the scientific literature (PMID: 28588062), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D G258Sfs*50

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.(35101016_35101332)
cDNA c.(772_924)
Protein p.G258Sfs*50
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.4 chr17:g.(35101016_35101332) c.(772_924) p.G258Sfs*50 RefSeq GRCh38/hg38
NM_002878.3 chr17:g.(35101016_35101332) c.(772_924) p.G258Sfs*50 RefSeq GRCh38/hg38
NM_002878 chr17:g.(35101016_35101332) c.(772_924) p.G258Sfs*50 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 G258Sfs*50 unknown
RAD51D S257_R259delinsK RAD51D G258Sfs*50