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| Gene | RAD51D |
| Variant | D206A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | RAD51D D206A lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). D206A fails to restore mitomycin sensitivity in cell culture (PMID: 16717288), and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast and in cell culture assays (PMID: 16717288, PMID: 28646019). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D D206A |
| Transcript | NM_002878.4 |
| gDNA | chr17:g.35103504T>G |
| cDNA | c.617A>C |
| Protein | p.D206A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002878.4 | chr17:g.35103504T>G | c.617A>C | p.D206A | RefSeq | GRCh38/hg38 |
| NM_002878 | chr17:g.35103504T>G | c.617A>C | p.D206A | RefSeq | GRCh38/hg38 |
| NM_002878.3 | chr17:g.35103504T>G | c.617A>C | p.D206A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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