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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

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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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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...