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Gene | RAD51C |
Variant | G264S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C G264S does not lie within any known functional domains of the Rad51c protein (UniProt.org). The functional effect of G264S is conflicting as it results in accumulation of replication stress and decreased cell growth (PMID: 37488098), moderately decreased DNA damage response, interstrand cosslink repair (PMID: 22167183), and homologous recombination in cultured cells (PMID: 22167183, PMID: 25292178), but retains binding with Xrcc3 and activates Chek2 similar to wild-type protein in culture (PMID: 22167183), rescues MMC sensitivity (PMID: 20400964), and demonstrated proficient HDR activity in culture (PMID: 37488098), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C G264S |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709943G>A |
cDNA | c.790G>A |
Protein | p.G264S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.4 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58709943G>A | c.790G>A | p.G264S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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