GENETIC ENCYCLOPEDIA
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gene: GATA1

id2623
symbolGATA1
organismHomo sapiens
full nameGATA binding protein 1
summaryThis gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
variant-disease

NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser) AND GATA-1-related thrombocytopenia with dyserythropoiesis

NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) AND GATA-1-related thrombocytopenia with dyserythropoiesis

NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser) AND Thrombocytopenia, X-linked, without dyserythropoietic anemia

NM_002049.3(GATA1):c.220G>C (p.Val74Leu) AND Anemia without thromobocytopenia, X-linked

NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) AND Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

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