SWISSVAR
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1 protein found in SwissVar (23 variants)

with gene/protein name P15382

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)
P15382 KCNE1_HUMAN jervell and lange-nielsen syndrome 2 p.Thr7Ile
p.Val47Phe
p.Leu51His
p.Asp76Asn




P15382 KCNE1_HUMAN long qt syndrome 5 p.Ala8Val
p.Thr10Met
p.Ser28Leu
p.Arg32His
p.Arg36His
p.Phe53Ser
p.Gly55Ser
p.Thr58Pro
p.Leu59Pro
p.Arg67Cys
p.Arg67His
p.Lys70Met
p.Ser74Leu
p.Asp76Asn
p.Glu83Lys
p.Trp87Arg
p.Arg98Trp
p.Val109Ile
p.Thr125Met
p.Pro127Thr