SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name O75369

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)
O75369 FLNB_HUMAN the periventricular nodular heterotopia disorder
O75369 FLNB_HUMAN atelosteogenesis 1 p.Ala173Val
p.Ser188Pro
p.Met202Val



O75369 FLNB_HUMAN atelosteogenesis 3 p.Met202Val
p.Gly751Arg


O75369 FLNB_HUMAN boomerang dysplasia p.Leu171Arg
p.Ser235Pro


O75369 FLNB_HUMAN larsen syndrome p.Phe161Cys
p.Gly168Ser
p.Glu227Lys
p.Leu234Val
p.Gly361Ser
p.Gly363Glu
p.Leu1431Arg
p.Gly1586Arg
p.Val1592Asp
p.Pro1603Leu
p.Gly1691Ser
p.Gly1834Arg












O75369 FLNB_HUMAN spondylocarpotarsal synostosis syndrome