SWISSVAR
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1 protein found in SwissVar (20 variants)

with gene/protein name P04792

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)
P04792 HSPB1_HUMAN charcot-marie-tooth disease 2f p.Pro39Leu
p.Ser135Phe
p.Arg136Leu
p.Arg136Trp
p.Thr164Ala
p.Arg188Trp






P04792 HSPB1_HUMAN neuronopathy, distal hereditary motor, 2b p.Pro7Ser
p.Gly34Arg
p.Pro39Leu
p.Glu41Lys
p.Gly53Asp
p.Gly84Arg
p.Leu99Met
p.Arg127Trp
p.Gln128Arg
p.Ser135Phe
p.Arg136Leu
p.Arg140Gly
p.Lys141Gln
p.Thr151Ile
p.Thr180Ile
p.Pro182Leu
p.Ser187Leu