SWISSVAR
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1 protein found in SwissVar (9 variants)

with gene/protein name Q7Z2E3

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)
Q7Z2E3 APTX_HUMAN ataxia-oculomotor apraxia syndrome p.Lys211Gln
p.Ala212Val
p.Arg213His
p.His215Arg
p.Pro220Leu
p.Leu237Pro
p.Val277Gly
p.Asp281Gly
p.Trp293Arg