SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name P02511

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)
P02511 CRYAB_HUMAN myopathy, myofibrillar, 2 p.Asp109His
p.Arg120Gly


P02511 CRYAB_HUMAN cataract 16, multiple types
P02511 CRYAB_HUMAN restrictive cardiomyopathy
P02511 CRYAB_HUMAN myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related
P02511 CRYAB_HUMAN cardiomyopathy, dilated 1ii p.Gly154Ser
p.Arg157His