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Gene | RAD51C |
Variant | L219S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C L219S does not lie within any known functional domains of the Rad51c protein (UniProt.org). L219S results in a loss of Rad51 foci formation in cell culture (PMID: 22451500) and decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay, but results in homologous recombination activity similar to wild-type Rad51c and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C L219S |
Transcript | NM_058216.3 |
gDNA | chr17:g.58703280T>C |
cDNA | c.656T>C |
Protein | p.L219S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58703280T>C | c.656T>C | p.L219S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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