SWISSVAR

1 protein found in SwissVar (10 variants)

with gene/protein name Q96GM8

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)
Q96GM8 TOE1_HUMAN pontocerebellar hypoplasia 7 p.Arg73Ser
p.Ala103Thr
p.Phe148Tyr
p.Val173Gly
p.Glu220Lys
p.Phe239Ser
p.Arg253Trp
p.His319Gln
p.His319Tyr
p.Ser496Phe