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Gene | RAD51D |
Variant | K113R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D K113R lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). The functional effect of K113R is conflicting, as it restores mitomycin sensitivity and retains the ability to interact with Xrcc2 similar to wild-type Rad51d (PMID: 16717288, PMID: 16236763), however, fails to restore mitomycin-induced DNA damage, and demonstrates reduced homologous recombination repair ability, and decreased binding to Rad51c in cell culture (PMID: 16236763, PMID: 16717288, PMID: 30836272), and therefore, its effect on Rad51d protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D K113R |
Transcript | NM_002878.4 |
gDNA | chr17:g.35107373T>C |
cDNA | c.338A>G |
Protein | p.K113R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.3 | chr17:g.35107373T>C | c.338A>G | p.K113R | RefSeq | GRCh38/hg38 |
NM_002878 | chr17:g.35107373T>C | c.338A>G | p.K113R | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35107373T>C | c.338A>G | p.K113R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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