SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name P15976

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)
P15976 GATA1_HUMAN x-linked dyserythropoietic anemia and thrombocytopenia p.Val205Met
p.Gly208Ser
p.Asp218Gly
p.Asp218Tyr




P15976 GATA1_HUMAN thrombocytopenia with beta-thalassemia, x-linked p.Arg216Gln

P15976 GATA1_HUMAN anemia without thrombocytopenia, x-linked