SWISSVAR
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1 protein found in SwissVar (3 variants)

with gene/protein name O43497

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)
O43497 CAC1G_HUMAN spinocerebellar ataxia 42 p.Arg1715His

O43497 CAC1G_HUMAN spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits p.Ala961Thr
p.Met1531Val