SWISSVAR
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1 protein found in SwissVar (11 variants)

with gene/protein name Q9H221

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)
Q9H221 ABCG8_HUMAN gallbladder disease 4
Q9H221 ABCG8_HUMAN sitosterolemia p.Arg184His
p.Pro231Thr
p.Glu238Lys
p.Arg263Gln
p.Arg405His
p.Leu501Pro
p.Arg543Ser
p.Leu572Pro
p.Gly574Glu
p.Gly574Arg
p.Leu596Arg