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Gene | RAD51C |
Variant | Q133K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C Q133K lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). Q133K results in decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C Q133K |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695182C>A |
cDNA | c.397C>A |
Protein | p.Q133K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216.2 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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