1 protein found in SwissVar (8 variants)
with gene/protein name Q99814
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) |
|---|---|---|---|---|
| Q99814 | EPAS1_HUMAN | p.Thr766Pro p.Pro785Thr |
| |
| Q99814 | EPAS1_HUMAN | familial erythrocytosis 4 | p.Pro534Leu p.Met535Val p.Met535Thr p.Gly537Trp p.Gly537Arg p.Phe540Leu |
|
