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Gene | RAD51C |
Variant | D242N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C D242N does not lie within any known functional domains of the Rad51c protein (UniProt.org). D242N results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C D242N |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709877G>A |
cDNA | c.724G>A |
Protein | p.D242N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.4 | chr17:g.58709877G>A | c.724G>A | p.D242N | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58709877G>A | c.724G>A | p.D242N | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58709877G>A | c.724G>A | p.D242N | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58709877G>A | c.724G>A | p.D242N | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58709877G>A | c.724G>A | p.D242N | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58709877G>A | c.724G>A | p.D242N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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