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Gene | RAD51D |
Variant | E233G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D E233G lies within the ATPase domain of the Rad51d protein (PMID: 28646019). E233G results in homologous recombination-mediated DNA repair activity similar to wild-type Rad51d in cell culture (PMID: 28646019), but in another study, results in increased cell proliferation and telomere maintenance dysfunction in culture (PMID: 19033885), and therefore, its effect on Rad51d protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D E233G |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103294T>C |
cDNA | c.698A>G |
Protein | p.E233G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.4 | chr17:g.35103294T>C | c.698A>G | p.E233G | RefSeq | GRCh38/hg38 |
NM_002878 | chr17:g.35103294T>C | c.698A>G | p.E233G | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35103294T>C | c.698A>G | p.E233G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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