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Gene | RAD51C |
Variant | G112V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C G112V lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G112V results in decreased interaction with Rad51b, Rad51c, and Xrcc3 in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C G112V |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695120G>T |
cDNA | c.335G>T |
Protein | p.G112V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.3 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695120G>T | c.335G>T | p.G112V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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