SWISSVAR
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1 protein found in SwissVar (58 variants)

with gene/protein name Q06124

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)
Q06124 PTN11_HUMAN leopard syndrome 1 p.Tyr279Ser
p.Tyr279Cys
p.Ala465Thr
p.Gly468Ala
p.Thr472Met
p.Arg502Leu
p.Arg502Trp
p.Gln510Pro
p.Gln514Glu
p.Gln514Pro










Q06124 PTN11_HUMAN noonan syndrome 1 p.Thr2Ile
p.Thr42Ala
p.Asn58Lys
p.Thr59Ala
p.Gly60Ala
p.Asp61Gly
p.Asp61Asn
p.Tyr62Asp
p.Tyr63Cys
p.Glu69Gln
p.Ala72Ser
p.Ala72Gly
p.Thr73Ile
p.Glu76Asp
p.Gln79Arg
p.Gln79Pro
p.Asp106Ala
p.Glu139Asp
p.Gln256Arg
p.Leu261Phe
p.Leu261His
p.Leu262Phe
p.Leu262Arg
p.Arg265Gln
p.Tyr279Cys
p.Ile282Val
p.Phe285Ser
p.Phe285Leu
p.Asn308Ser
p.Asn308Asp
p.Ile309Val
p.Thr415Met
p.Pro495Ser
p.Arg505Lys
p.Ser506Thr
p.Gly507Arg
p.Met508Val
p.Gln510Arg
p.Gln514Glu
p.Leu564Phe








































Q06124 PTN11_HUMAN leukemia, juvenile myelomonocytic p.Asp61Val
p.Asp61Tyr
p.Glu69Lys
p.Ala72Val
p.Ala72Thr
p.Glu76Gly
p.Glu76Ala
p.Glu76Val
p.Glu76Lys
p.Gly507Ala
p.Gly507Arg











Q06124 PTN11_HUMAN metachondromatosis