SWISSVAR
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1 protein found in SwissVar (16 variants)

with gene/protein name P06753

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)
P06753 TPM3_HUMAN nemaline myopathy 1 p.Met9Arg
p.Ser88Phe
p.Arg168His
p.Arg168Cys




P06753 TPM3_HUMAN papillary thyroid carcinomas
P06753 TPM3_HUMAN myopathy, congenital, with fiber-type disproportion p.Ala4Val
p.Arg91Pro
p.Leu100Met
p.Leu100Val
p.Arg168His
p.Arg168Cys
p.Arg168Gly
p.Lys169Glu
p.Glu174Ala
p.Glu241Lys
p.Arg245Gly











P06753 TPM3_HUMAN cap myopathy 1 p.Ser88Phe
p.Leu149Ile
p.Glu151Ala
p.Arg168Cys
p.Arg168His
p.Arg245Ile