SWISSVAR
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1 protein found in SwissVar (25 variants)

with gene/protein name Q8IU80

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)
Q8IU80 TMPS6_HUMAN iron-refractory iron deficiency anemia p.Glu114Lys
p.Ala118Asp
p.Tyr141Cys
p.Ile212Thr
p.Leu235Pro
p.Trp247Cys
p.Arg271Gln
p.Thr287Asn
p.Ser304Leu
p.Cys335Phe
p.Tyr418Cys
p.Gly442Arg
p.Cys510Arg
p.Cys510Ser
p.Asp521Asn
p.Asp521Gly
p.Glu522Lys
p.Trp590Arg
p.Arg597Trp
p.Gly603Arg
p.Ala605Gly
p.Leu606Arg
p.Ser623Thr
p.Pro765Ala
p.Arg774Cys