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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

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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
NM_058216.3 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
XM_006722001.4 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
XM_006722002.5 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

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References