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| 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 |
| 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 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
| NM_002878.4 | 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 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|