SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q9H3H5

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)
Q9H3H5 GPT_HUMAN congenital disorder of glycosylation 1j p.Tyr170Cys

Q9H3H5 GPT_HUMAN myasthenic syndrome, congenital, 13 p.Met108Ile
p.Val117Ile
p.Leu120Met
p.Gly160Ser
p.Gly192Ser
p.Val264Gly