SWISSVAR
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1 protein found in SwissVar (16 variants)

with gene/protein name Q5JVL4

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)
Q5JVL4 EFHC1_HUMAN p.Arg159Trp
p.Ile174Val
p.Arg182His
p.Cys259Tyr
p.Arg285Ile
p.Arg294His
p.Glu357Lys
p.Ala394Ser
p.Met448Thr
p.Ile619Leu










Q5JVL4 EFHC1_HUMAN juvenile myoclonic epilepsy 1 p.Pro77Thr
p.Asp210Asn
p.Arg221His
p.Phe229Leu
p.Asp253Tyr
p.Arg353Trp






Q5JVL4 EFHC1_HUMAN juvenile absence epilepsy 1