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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_002878.4 | chr17:g.35103501G>A | c.620C>T | p.S207L | RefSeq | GRCh38/hg38 |
| 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 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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