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Gene | RAD51D |
Variant | S207L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51D S207L lies within the Walker B motif of the Rad51d protein (PMID: 28646019). S207L results in impaired homologous recombination, as demonstrated by disruption of the interaction between Rad51d and Xrcc2 and decreased Rad50 accumulation in response to DNA damage in cultured cells (PMID: 28646019). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D S207L |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103501G>A |
cDNA | c.620C>T |
Protein | p.S207L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.3 | chr17:g.35103501G>A | c.620C>T | p.S207L | RefSeq | GRCh38/hg38 |
NM_002878 | chr17:g.35103501G>A | c.620C>T | p.S207L | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35103501G>A | c.620C>T | p.S207L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51D S207L | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing RAD51D S207L demonstrated decreased survival when treated with Lynparza (olaparib) in culture (PMID: 28646019). | 28646019 |
RAD51D S207L | Advanced Solid Tumor | sensitive | Talazoparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing RAD51D S207L demonstrated decreased survival when treated with Talzenna (talazoparib) in culture (PMID: 28646019). | 28646019 |