SWISSVAR

1 protein found in SwissVar (35 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 p.Ser45Leu
p.Ala99Val
p.Asp197Asn
p.Arg261His
p.His272Gln
p.Gln296Arg
p.Arg323Cys
p.Gly379Arg
p.Glu382Lys
p.Arg402Gln
p.Pro415Ser
p.Gly427Asp
p.Ala440Thr
p.Arg451Trp
p.Gly461Asp
p.Pro503Thr
















Q18PE1 DOK7_HUMAN myasthenia, limb-girdle, familial 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