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RAD51D K113A - Gene Variant Detail

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Gene RAD51D
Variant K113A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51D K113A lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). The functional effect of K113A 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, demonstrates decreased Rad51c binding, reduced homologous recombination repair ability, and failure to restore mitomycin-induced DNA damage 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 K113A

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Transcript NM_002878.4
gDNA chr17:g.35107373_35107374delAAinsGC
cDNA c.337_338delAAinsGC
Protein p.K113A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.3 chr17:g.35107373_35107374delAAinsGC c.337_338delAAinsGC p.K113A RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35107373_35107374delAAinsGC c.337_338delAAinsGC p.K113A RefSeq GRCh38/hg38
NM_002878 chr17:g.35107373_35107374delTTinsGC c.337_338delAAinsGC p.K113A RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries