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Gene | RAD51C |
Variant | R12W |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C R12W lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). R12W retains binding of Rad51d but results in decreased interaction with Rad51b and Xrcc3 in a yeast assay and reduced homologous recombination activity in culture (PMID: 36099300), and therefore, is predicted to lead to a loss of Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C R12W |
Transcript | NM_058216.3 |
gDNA | chr17:g.58692677C>T |
cDNA | c.34C>T |
Protein | p.R12W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.4 | chr17:g.58692677C>T | c.34C>T | p.R12W | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58692677C>T | c.34C>T | p.R12W | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58692677C>T | c.34C>T | p.R12W | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58692677C>T | c.34C>T | p.R12W | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58692677C>T | c.34C>T | p.R12W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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