1 protein found in SwissVar (5 variants)
with gene/protein name Q9NRA2
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) |
---|---|---|---|---|
Q9NRA2 | S17A5_HUMAN | salla disease | p.Arg39Cys p.Lys136Glu |
|
Q9NRA2 | S17A5_HUMAN | infantile sialic acid storage disorder | p.His183Arg p.Pro334Arg p.Gly371Val |
|