SWISSVAR

1 protein found in SwissVar (16 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 brown-vialetto-van laere syndrome 1 p.Trp17Arg
p.Asn21Ser
p.Pro28Thr
p.Glu36Lys
p.Val58Asp
p.Glu71Lys
p.Arg132Trp
p.Pro220His
p.Phe224Leu
p.Arg266Trp
p.Ala312Val
p.Pro319Ser
p.Gly330Val
p.Gly375Asp
p.Val413Ala
p.Phe457Leu
















Q9NQ40 S52A3_HUMAN fazio-londe disease