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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_017024916 | 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 |
NM_058216 | 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_006722001.4 | 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_017024914.1 | chr17:g.58734187_58734189delCGGinsTGT | c.745_747delCGGinsTGT | 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_017024915.1 | 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_006722002.5 | 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_017024917 | 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 |
XM_006722001.5 | 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_017024914 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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