SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name Q9UPZ9

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)
Q9UPZ9 ICK_HUMAN endocrine-cerebroosteodysplasia p.Arg272Gln

Q9UPZ9 ICK_HUMAN juvenile myoclonic epilepsy 10 p.Ile102Leu
p.Lys220Glu
p.Lys305Thr
p.Ala615Thr