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Gene | RAD51C |
Variant | D159N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C D159N does not lie within any known functional domains of the Rad51c protein (UniProt.org). D159N demonstrates partial rescue of mitomycin C hypersensitivity in chicken cells and Rad51 foci formation similar to wild-type Rad51c in human cells in culture (PMID: 20400964), but in another study results in decreased binding to Brca2, Palb2, Rad51 (PMID: 24141787), and Rad51d and demonstrates loss of interaction with Xrcc3 in cell culture (PMID: 37253112), and binds to Rad51b and Rad51c at reduced levels but to Xrcc3 similar to wild-type protein in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C D159N |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696763G>A |
cDNA | c.475G>A |
Protein | p.D159N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.5 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58696763G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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