SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name Q9UPW5

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)
Q9UPW5 CBPC1_HUMAN neurodegeneration, childhood-onset, with cerebellar atrophy p.Tyr694Asp
p.Arg799Cys
p.Thr851Met
p.Arg910Cys
p.Arg918Trp
p.His990Leu