SWISSVAR

1 protein found in SwissVar (19 variants)

with gene/protein name Q18PE1

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)
Q18PE1 DOK7_HUMAN myasthenic syndrome, congenital, 10 p.Glu3Lys
p.Pro31Thr
p.Ala33Val
p.Thr77Met
p.Gly109Cys
p.Val116Met
p.His132Gln
p.Val139Leu
p.Pro146Leu
p.Leu157Arg
p.Arg158Gln
p.Gly161Arg
p.Gly166Arg
p.Gly171Asp
p.Gly171Arg
p.Gly172Arg
p.Gly180Val
p.Gly180Ala
p.Pro469His