SWISSVAR
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1 protein found in SwissVar (29 variants)

with gene/protein name P42768

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)
P42768 WASP_HUMAN wiskott-aldrich syndrome p.Glu31Lys
p.Cys43Trp
p.Thr45Met
p.Gln52His
p.Pro58Leu
p.Gly70Trp
p.Cys73Arg
p.Ser82Pro
p.Phe84Leu
p.Arg86Cys
p.Arg86His
p.Arg86Leu
p.Gly89Asp
p.Trp97Cys
p.Glu131Lys
p.Glu133Lys
p.Ala134Thr
p.Gly187Cys
p.Lys476Glu



















P42768 WASP_HUMAN thrombocytopenia 1 p.Leu27Phe
p.Thr45Met
p.Thr48Ile
p.Ala56Val
p.Pro58Arg
p.Val75Met
p.Tyr83Cys
p.Ala236Glu
p.Arg477Lys
p.Ile481Asn










P42768 WASP_HUMAN neutropenia, severe congenital, x-linked p.Leu270Pro