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| Gene | RAD51C |
| Variant | P330H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C P330H does not lie within any known functional domains of the Rad51c protein (UniProt.org). P330H retains binding with Rad51b and Xrcc3 and rescues survival in Rad51c-null cells in culture, however, results in decreased binding with Rad51d in a yeast assay and reduced homologous recombination activity in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C P330H |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58732507C>A |
| cDNA | c.989C>A |
| Protein | p.P330H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.2 | chr17:g.58732507C>A | c.989C>A | p.P330H | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58732507C>A | c.989C>A | p.P330H | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58732507C>A | c.989C>A | p.P330H | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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