SWISSVAR

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