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| Gene | RAD51C |
| Variant | D108Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C D108Y lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). D108Y results in interaction with Rad51b, Rad51d, and Xrcc3 similar to wild-type Rac51c in a yeast assay, and retains functional homologous recombination activity and rescues survival in Rad51c-null cells in culture (PMID: 36099300), however, the genomic change (c.322G>T) leads to decreased survival in a high-throughput cell culture assay (PMID: 39299233), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C D108Y |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58695107G>T |
| cDNA | c.322G>T |
| Protein | p.D108Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722001.4 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| NM_002876.3 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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