SWISSVAR
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1 protein found in SwissVar (11 variants)

with gene/protein name O75096

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)
O75096 LRP4_HUMAN cenani-lenz syndactyly syndrome p.Asp137Asn
p.Cys160Tyr
p.Asp449Asn
p.Thr461Pro
p.Leu473Phe
p.Asp529Asn
p.Cys1017Arg







O75096 LRP4_HUMAN sclerosteosis 2 p.Arg1170Trp
p.Trp1186Ser


O75096 LRP4_HUMAN myasthenic syndrome, congenital, 17 p.Glu1233Lys
p.Arg1277His