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 |