SWISSVAR
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1 protein found in SwissVar (44 variants)

with gene/protein name A6NHR9

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)
A6NHR9 SMHD1_HUMAN facioscapulohumeral muscular dystrophy 2 p.Ala110Thr
p.Gly137Glu
p.Leu194Phe
p.His263Asp
p.Tyr283Cys
p.Tyr353Cys
p.Gly425Arg
p.Gly478Glu
p.Arg479Pro
p.Cys492Arg
p.Thr527Met
p.Val615Asp
p.Pro690Ser
p.Gly716Ser
p.Leu748Pro
p.Asp849Asn
p.Ser868Asn
p.Arg1449Lys
p.Gln1463Pro
p.Met1468Ile
p.Pro1485Leu
p.Phe1554Ser






















A6NHR9 SMHD1_HUMAN bosma arhinia microphthalmia syndrome p.Leu107Pro
p.Met129Lys
p.Ala134Ser
p.Ser135Asn
p.Ser135Cys
p.Ser135Ile
p.Glu136Gly
p.Glu136Asp
p.Gly137Glu
p.Asn139His
p.Leu141Phe
p.Phe171Val
p.Ala242Gly
p.Trp342Ser
p.Gln345Arg
p.His348Arg
p.Gln400Leu
p.Asp420Val
p.Glu473Gln
p.Lys518Glu
p.Thr523Lys
p.Asn524Ser
p.Arg552Gln