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Gene | RAD51D |
Variant | V203E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51D V203E lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). V203E fails to restore mitomycin sensitivity in cell culture and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast assays (PMID: 16717288). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D V203E |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103513A>T |
cDNA | c.608T>A |
Protein | p.V203E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RAD51D V203E | loss of function | Olaparib |