SWISSVAR

1 protein found in SwissVar (9 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 juvenile myoclonic epilepsy 1 p.Pro77Thr
p.Arg118Cys
p.Arg153Gln
p.Arg182Cys
p.Asp210Asn
p.Arg221His
p.Phe229Leu
p.Asp253Tyr
p.Arg353Trp









Q5JVL4 EFHC1_HUMAN juvenile absence epilepsy 1
Q5JVL4 EFHC1_HUMAN intractable epilepsy of infancy