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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 |
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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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