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Gene | RAD51D |
Variant | G96C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51D G96C does not lie within any known functional domains of the Rad51d protein (UniProt.org). G96C results in reduced homologous recombination, impaired Xrcc2 binding compared to wild-type Rad51d in culture, and reduced binding with Rad51c and Xrcc2 in yeast (PMID: 30836272). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D G96C |
Transcript | NM_002878.4 |
gDNA | chr17:g.35107425C>A |
cDNA | c.286G>T |
Protein | p.G96C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.3 | chr17:g.35107425C>A | c.286G>T | p.G96C | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35107425C>A | c.286G>T | p.G96C | RefSeq | GRCh38/hg38 |
NM_002878 | chr17:g.35107425C>A | c.286G>T | p.G96C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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