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Gene | RAD51C |
Variant | R193* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C R193* results in a premature truncation of the Rad51c protein at amino acid 193 of 376 (UniProt.org). R193* confers a loss of function to the Rad51c protein as demonstrated by impairment of homologous recombination repair in cultured cells and reduced interaction with Xrcc3 and Rad51b in yeast assays (PMID: 28588062). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C R193* |
Transcript | NM_058216.3 |
gDNA | chr17:g.58703201C>T |
cDNA | c.577C>T |
Protein | p.R193* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58703201C>T | c.577C>T | p.R193* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C R193* | ovarian carcinoma | predicted - sensitive | Rucaparib | Case Reports/Case Series | Actionable | In a clinical case study, an ovarian carcinoma patient harboring a RAD51C R193* germline mutation demonstrated a partial response when treated with Rubraca (rucaparib) (PMID: 28588062). | 28588062 |