1 protein found in SwissVar (16 variants)
with gene/protein name O60706
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| O60706 | ABCC9_HUMAN | p.Pro1108Ser |
| |
| O60706 | ABCC9_HUMAN | cardiomyopathy, dilated 1o | p.Ala1513Thr |
|
| O60706 | ABCC9_HUMAN | familial atrial fibrillation 12 | p.Thr1547Ile |
|
| O60706 | ABCC9_HUMAN | hypertrichotic osteochondrodysplasia | p.His60Tyr p.Asp207Glu p.Gly380Cys p.Pro432Leu p.Ala478Val p.Ser1020Pro p.Phe1039Ser p.Cys1043Tyr p.Ser1054Tyr p.Arg1116Cys p.Arg1116His p.Arg1154Trp p.Arg1154Gln |
|