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| Gene | RAD51C |
| Variant | R249C |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | RAD51C R249C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R249C binds to Rad51b, Rad51d, and Xrcc3 at similar levels as wild-type protein in a yeast assay, demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C R249C |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58709898C>T |
| cDNA | c.745C>T |
| Protein | p.R249C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017024914 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024918 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024917.1 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024916 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024915.1 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024915 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_006722002 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024914.1 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024917 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024918.2 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_017024916.1 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | p.R249C | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58709898C>T | c.745C>T | p.R249C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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