SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name Q02763

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)
Q02763 TIE2_HUMAN dominantly inherited venous malformations p.Arg849Trp
p.Tyr897Ser
p.Tyr897Cys
p.Arg915His
p.Arg918Cys
p.Val919Leu
p.Ala925Ser
p.Lys1100Asn








Q02763 TIE2_HUMAN solitary and multiple sporadic venous malformations p.Leu914Phe

Q02763 TIE2_HUMAN range of diseases with
Q02763 TIE2_HUMAN glaucoma 3, primary congenital, e p.Cys233Tyr
p.Lys294Asn
p.Tyr611Cys