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Gene | RAD51C |
Variant | A30E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | RAD51C A30E lies within the region required for Holliday junction resolution activity of the Rad51c protein (UniProt.org). A30E binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C A30E |
Transcript | NM_058216.3 |
gDNA | chr17:g.58692732C>A |
cDNA | c.89C>A |
Protein | p.A30E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.4 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58692732C>A | c.89C>A | p.A30E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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