SWISSVAR
Home  |  Contact

1 protein found in SwissVar (10 variants)

with gene/protein name P01137

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)
P01137 TGFB1_HUMAN camurati-engelmann disease p.Tyr81His
p.Arg218His
p.Arg218Cys
p.His222Asp
p.Cys223Gly
p.Cys223Arg
p.Cys225Arg







P01137 TGFB1_HUMAN inflammatory bowel disease, immunodeficiency, and encephalopathy p.Arg45Cys
p.Arg110Cys
p.Cys387Arg