SWISSVAR
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1 protein found in SwissVar (25 variants)

with gene/protein name P22557

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)
P22557 HEM0_HUMAN anemia, sideroblastic, 1 p.Lys156Glu
p.Asp159Tyr
p.Phe165Leu
p.Arg170Cys
p.Arg170His
p.Tyr199His
p.Arg204Gln
p.Arg218His
p.Glu242Lys
p.Asp263Asn
p.Val301Ala
p.Pro339Leu
p.Arg375Cys
p.Thr388Ser
p.Arg411Cys
p.Arg411His
p.Arg448Gln
p.Arg452Cys
p.Arg452Gly
p.Arg452His
p.Ile476Asn
p.Arg517Gly
p.Pro520Leu
p.Arg560His
p.Arg572His

























P22557 HEM0_HUMAN erythropoietic protoporphyria, x-linked dominant