1 protein found in SwissVar (6 variants)
with gene/protein name P00491
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) |
|---|---|---|---|---|
| P00491 | PNPH_HUMAN | p.Gly51Ser |
| |
| P00491 | PNPH_HUMAN | purine nucleoside phosphorylase deficiency | p.Glu89Lys p.Asp128Gly p.Ala174Pro p.Tyr192Cys p.Arg234Pro |
|
