SWISSVAR
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1 protein found in SwissVar (47 variants)

with gene/protein name Q14654

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)
Q14654 KCJ11_HUMAN familial hyperinsulinemic hypoglycemia 2 p.Arg34His
p.Gly40Asp
p.Phe55Leu
p.Lys67Asn
p.Trp91Arg
p.Ala101Asp
p.Ser116Pro
p.Gly134Ala
p.Arg136Leu
p.Leu147Pro
p.Gly156Arg
p.Asp204Glu
p.Pro254Leu
p.His259Arg
p.Pro266Leu
p.Glu282Lys
p.Arg301His

















Q14654 KCJ11_HUMAN diabetes mellitus, permanent neonatal p.Phe35Leu
p.Phe35Val
p.His46Tyr
p.Arg50Pro
p.Arg50Gln
p.Gln52Arg
p.Gly53Asp
p.Val59Met
p.Val59Gly
p.Phe60Tyr
p.Val64Leu
p.Leu164Pro
p.Cys166Tyr
p.Ile167Leu
p.Lys170Arg
p.Lys170Thr
p.Lys170Asn
p.Arg201Cys
p.Arg201His
p.Arg201Leu
p.Ile296Leu
p.Glu322Lys
p.Tyr330Cys
p.Tyr330Ser
p.Phe333Ile

























Q14654 KCJ11_HUMAN transient neonatal diabetes mellitus 3 p.Cys42Arg
p.Gly53Arg
p.Gly53Ser
p.Ile182Val




Q14654 KCJ11_HUMAN non-insulin-dependent diabetes mellitus
Q14654 KCJ11_HUMAN maturity-onset diabetes of the young 13 p.Glu227Lys