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Gene | RAD51D |
Variant | G112del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D G112del results in the deletion of an amino acid in the Walker A motif region of the Rad51d protein at amino acid 112 (PMID: 30836272). G112del demonstrates reduced ability to interact with Xrcc2 and Rad51c in yeast assays, and fails to restore mitomycin-induced DNA damage in combination with K113del in cell culture (PMID: 16236763), but has not been individually characterized and therefore, its effect on Rad51d protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D G112del |
Transcript | NM_002878.4 |
gDNA | chr17:g.35107377_35107379delCGC |
cDNA | c.334_336delGGC |
Protein | p.G112delG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_133629.3 | chr17:g.35103320_35103322delCAA | c.334_336delTTG | p.L112delL | RefSeq | GRCh38/hg38 |
NM_001142571.2 | chr17:g.35107435_35107437delCAG | c.336_338delGCT | p.L113delL | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35107377_35107379delCGC | c.334_336delGGC | p.G112del | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35107377_35107379delCGC | c.334_336delGGC | p.G112delG | RefSeq | GRCh38/hg38 |
NM_002878 | chr17:g.35107377_35107379delCGC | c.334_336delGGC | p.G112del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51D mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |
RAD51D mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51D mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |