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 V203E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51D V203E lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). V203E fails to restore mitomycin sensitivity in cell culture and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast assays (PMID: 16717288).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D V203E

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.35103513A>T
cDNA c.608T>A
Protein p.V203E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.4 chr17:g.35103513A>T c.608T>A p.V203E RefSeq GRCh38/hg38
NM_002878 chr17:g.35103513A>T c.608T>A p.V203E RefSeq GRCh38/hg38
NM_002878.3 chr17:g.35103513A>T c.608T>A p.V203E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51D inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in RAD51D (NCCN.org). detail...
RAD51D inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including RAD51D (PMID: 32343890; NCT02987543). detail... detail... 32343890
RAD51D mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...
RAD51D mutant breast cancer not applicable N/A Guideline Risk Factor Germline RAD51D mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...