SWISSVAR

1 protein found in SwissVar (12 variants)

with gene/protein name Q9NQ40

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)
Q9NQ40 S52A3_HUMAN p.Ile74Met
p.Asp174Gly
p.Pro267Leu
p.Thr278Met
p.Ile303Val
p.Leu350Met
p.Ser411Arg







Q9NQ40 S52A3_HUMAN brown-vialetto-van laere syndrome 1 p.Glu36Lys
p.Arg132Trp
p.Phe224Leu
p.Val413Ala
p.Phe457Leu





Q9NQ40 S52A3_HUMAN fazio-londe disease