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Gene | RAD51D |
Variant | D206A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51D D206A lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). D206A fails to restore mitomycin sensitivity in cell culture (PMID: 16717288), and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast and in cell culture assays (PMID: 16717288, PMID: 28646019). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D D206A |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103504T>G |
cDNA | c.617A>C |
Protein | p.D206A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878 | chr17:g.35103504T>G | c.617A>C | p.D206A | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35103504T>G | c.617A>C | p.D206A | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35103504T>G | c.617A>C | p.D206A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RAD51D D206A | loss of function | Olaparib |