SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name O60741

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)
O60741 HCN1_HUMAN epileptic encephalopathy, early infantile, 24 p.Gly47Val
p.Ser100Phe
p.Met153Ile
p.Ser272Pro
p.His279Tyr
p.Arg297Thr
p.Gly391Asp
p.Asp401His