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Gene | RAD51C |
Variant | R258H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C R258H does not lie within any known functional domains of the Rad51c protein (UniProt.org). R258H rescues survival in Rad51c-null cells in culture (PMID: 36099300), however, results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), defects in cell cycle progression at the G2/M transition (PMID: 22167183, PMID: 20400963), decreased sensitivity to mitomycin in cell culture, and reduced homologous recombination activity in a reporter assay (PMID: 22167183) and in cell culture (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C R258H |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709926G>A |
cDNA | c.773G>A |
Protein | p.R258H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.4 | chr17:g.58709926G>A | c.773G>A | p.R258H | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58709926G>A | c.773G>A | p.R258H | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58709926G>A | c.773G>A | p.R258H | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58709926G>A | c.773G>A | p.R258H | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58709926G>A | c.773G>A | p.R258H | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58709926G>A | c.773G>A | p.R258H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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