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Gene | RAD51C |
Variant | R214C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C R214C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R214C results in decreased interaction with Xrcc3 and Rad51b in a yeast-two-hybrid assay in one study (PMID: 21980511), but in another study binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300) and demonstrates homology-directed repair activity in cultured cells (PMID: 37253112), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C R214C |
Transcript | NM_058216.3 |
gDNA | chr17:g.58703264C>T |
cDNA | c.640C>T |
Protein | p.R214C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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