SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name Q12824

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)
Q12824 SNF5_HUMAN rhabdoid tumor predisposition syndrome 1
Q12824 SNF5_HUMAN schwannomatosis 1
Q12824 SNF5_HUMAN coffin-siris syndrome 3 p.Arg37His
p.Arg366Cys
p.Arg374Gln
p.Arg377His