SWISSVAR
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1 protein found in SwissVar (2 variants)

with gene/protein name Q9UHK6

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)
Q9UHK6 AMACR_HUMAN alpha-methylacyl-coa racemase deficiency p.Ser52Pro

Q9UHK6 AMACR_HUMAN congenital bile acid synthesis defect 4 p.Ser52Pro
p.Leu107Pro