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1 protein found in SwissVar (57 variants)

with gene/protein name O75197

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)
O75197 LRP5_HUMAN vitreoretinopathy, exudative 1 p.Arg348Trp
p.Asp381Asn
p.Arg624Trp
p.Tyr1517Cys




O75197 LRP5_HUMAN vitreoretinopathy, exudative 4 p.Leu145Phe
p.Thr173Met
p.Ala422Thr
p.Glu441Lys
p.Arg444Cys
p.Asp511Ala
p.Ala522Thr
p.Thr535Met
p.Leu540Pro
p.Gly550Arg
p.Arg570Gln
p.Gly610Arg
p.Phe617Cys
p.Arg752Gly
p.Thr798Ala
p.Arg805Trp
p.Thr852Met
p.Asn1121Asp
p.Tyr1168His
p.Cys1253Phe
p.Cys1361Gly
p.Glu1367Lys






















O75197 LRP5_HUMAN osteoporosis
O75197 LRP5_HUMAN osteoporosis-pseudoglioma syndrome p.Asp203Asn
p.Thr244Met
p.Ser307Phe
p.Arg348Trp
p.Arg353Gln
p.Ser356Leu
p.Thr390Lys
p.Ala400Glu
p.Gly404Arg
p.Thr409Ala
p.Asp434Asn
p.Glu460Lys
p.Trp478Arg
p.Arg494Gln
p.Trp504Cys
p.Gly520Val
p.Asn531Ile
p.Arg570Trp
p.Gly610Arg
p.Asp683Asn
p.Tyr733His
p.Asp1099Tyr
p.Arg1113Cys
p.Gly1401Asp
























O75197 LRP5_HUMAN high bone mass trait p.Arg154Met
p.Gly171Val
p.Met282Val



O75197 LRP5_HUMAN endosteal hyperostosis, worth type p.Ala214Thr
p.Ala214Val
p.Ala242Thr



O75197 LRP5_HUMAN osteopetrosis, autosomal dominant 1 p.Asp111Tyr
p.Gly171Arg
p.Ala242Thr
p.Thr253Ile




O75197 LRP5_HUMAN van buchem disease 2 p.Ala242Thr