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Gene RAD51C
Variant Q143R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51C Q143R does not lie within any known functional domains of the Rad51c protein (UniProt.org). Q143R confers a loss of function to the Rad51c protein as indicated by decreased Rad51 foci formation in cell culture (PMID: 22451500) and decreased interaction with Rad51b, Rad51c, and Xrcc3 in a yeast assay (PMID: 36099300).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C inact mut RAD51C Q143R

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Transcript NM_058216.3
gDNA chr17:g.58696716A>G
cDNA c.428A>G
Protein p.Q143R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001.5 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
XM_006722001 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
XM_006722002 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
NM_058216 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58696716A>G c.428A>G p.Q143R RefSeq GRCh38/hg38

Filtering

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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")

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