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| Gene | RAD51C |
| Variant | S105* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51C S105* results in a premature truncation of the Rad51c protein at amino acid 105 of 376 (UniProt.org). S105* has not been characterized however, due to the effects of other truncation mutations downstream of S105 (PMID: 28588062), is predicted to lead to a loss of Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C S105* |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58695099C>A |
| cDNA | c.314C>A |
| Protein | p.S105* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002876 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_006722002 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| NM_002876.3 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58695099C>A | c.314C>A | p.S105* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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