RAD51D V200*
Gene Variant Detail

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Gene RAD51D
Variant V200*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions RAD51D V200* results in a premature truncation of the Rad51d protein at amino acid 200 of 328 (UniProt.org). V200* results in decreased Rad51d protein stability, impaired DNA homologous recombination activity and DNA damage response, and increased sensitivity to PARP inhibitors in culture (PMID: 33151324).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D V200*

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Transcript NM_002878.4
gDNA chr17:g.35103522_35103523delGTinsTA
cDNA c.598_599delGTinsTA
Protein p.V200*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.3 chr17:g.35103522_35103523delGTinsTA c.598_599delGTinsTA p.V200* RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35103522_35103523delGTinsTA c.598_599delGTinsTA p.V200* 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51D V200* triple-receptor negative breast cancer sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment inhibited viability of triple-negative breast cancer cells expressing RAD51D V200* in culture (PMID: 33151324). 33151324