SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name Q08209

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)
Q08209 PP2BA_HUMAN epileptic encephalopathy, infantile or early childhood, 1 p.His92Arg
p.Asn150Ile
p.Asp234Glu
p.His281Gln
p.Glu282Lys
p.Ala447Thr






Q08209 PP2BA_HUMAN arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development p.Phe470Leu
p.Ala473Thr