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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 |
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 |
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 |
NM_058216.2 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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