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Gene RAD51C
Variant R249H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C R249H does not lie within any known functional domains of the Rad51c protein (UniProt.org). R249H binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C R249H

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Transcript NM_058216.3
gDNA chr17:g.58709899G>A
cDNA c.746G>A
Protein p.R249H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722002.4 chr17:g.58709899G>A c.746G>A p.R249H RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58709899G>A c.746G>A p.R249H RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58709899G>A c.746G>A p.R249H RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58709899G>A c.746G>A p.R249H RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58709899G>A c.746G>A p.R249H RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58709899G>A c.746G>A p.R249H 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries