SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name Q13510

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)
Q13510 ASAH1_HUMAN farber lipogranulomatosis p.Gln22His
p.His23Asp
p.Tyr36Cys
p.Val97Gly
p.Val97Glu
p.Glu138Val
p.Gly168Trp
p.Trp169Arg
p.Leu182Val
p.Thr222Lys
p.Gly235Arg
p.Arg254Gly
p.Asn320Asp
p.Arg333Cys
p.Pro362Arg















Q13510 ASAH1_HUMAN spinal muscular atrophy with progressive myoclonic epilepsy p.Thr42Met
p.Thr42Ala
p.Lys152Asn