SWISSVAR
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1 protein found in SwissVar (16 variants)

with gene/protein name P55072

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)
P55072 TERA_HUMAN inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 p.Arg95Gly
p.Ile126Phe
p.Arg155Pro
p.Arg155His
p.Arg155Cys
p.Arg155Leu
p.Arg155Ser
p.Arg159His
p.Arg191Gln
p.Leu198Trp
p.Ala232Glu
p.Asn387His












P55072 TERA_HUMAN amyotrophic lateral sclerosis 14, with or without frontotemporal dementia p.Arg155His
p.Arg159Gly
p.Arg191Gln
p.Asp592Asn




P55072 TERA_HUMAN charcot-marie-tooth disease 2y p.Gly97Glu
p.Glu185Lys