SWISSVAR

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 erythrocytosis, familial, 4 p.Pro534Leu
p.Met535Val
p.Met535Thr
p.Gly537Trp
p.Gly537Arg
p.Phe540Leu