SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name O00116

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)
O00116 ADAS_HUMAN rhizomelic chondrodysplasia punctata 3 p.Arg182Gln
p.Thr309Ile
p.Arg419His
p.Leu469Pro
p.Glu471Lys
p.Thr568Met