SWISSVAR
Home  |  Contact

1 protein found in SwissVar (16 variants)

with gene/protein name Q86TC9

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)
Q86TC9 MYPN_HUMAN nemaline myopathy 11
Q86TC9 MYPN_HUMAN cardiomyopathy, dilated 1kk p.Tyr20Cys
p.Ile213Val
p.Tyr339Phe
p.Ala611Thr
p.Ala882Thr
p.Phe954Leu
p.Arg955Trp
p.Pro961Leu
p.Arg1088His
p.Pro1112Leu
p.Val1195Met











Q86TC9 MYPN_HUMAN cardiomyopathy, familial hypertrophic 22 p.Tyr20Cys
p.Lys153Arg
p.Ala217Glu
p.Val410Ala
p.Pro841Thr
p.Pro1112Leu
p.Ala1265Pro







Q86TC9 MYPN_HUMAN cardiomyopathy, familial restrictive 4