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Results for the Protein: P15976
120956

GATA1_HUMAN RecName: Full=Erythroid transcription factor; AltName: Full=Eryf1; AltName: Full=GATA-binding factor 1; Short=GATA-1; Short=GF-1; AltName: Full=NF-E1 DNA-binding protein

Known Diseases associated with this Protein:
  THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
  THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (XLTT)
  THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
  THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
  X-LINKED DYSERYTHROPOIETIC ANEMIA AND THROMBOCYTOPENIA (XDAT)
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Default View:

ZnF_GATA - smart00401
ZnF_GATA - cd00202
GATA - pfam00320


Swiss-Prot Protein: P15976
Identical to: NP_002040
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_GATAcd002028.5e-21203256
ZnF_GATAcd002022e-27257308
GATApfam003201.7e-17204238
GATApfam003201e-18258292
ZnF_GATAsmart004011.6e-19199248
ZnF_GATAsmart004019.5e-25253302

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_033114Diseasep.ARG216GLNThrombocytopenia with beta-thalassemia, X-linked (XLTT)
Swiss-ProtVAR_012707Diseasep.ASP218GLYX-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
Swiss-ProtVAR_033115Diseasep.ASP218TYRX-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
Swiss-ProtVAR_012706Diseasep.GLY208SERX-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
Swiss-ProtVAR_010115Diseasep.VAL205METX-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
OMIM305371.0006 Diseasep.ARG216GLNTHROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
OMIM305371.0010 Diseasep.ARG216TRPTHROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
OMIM305371.0002 Diseasep.ASP218GLYTHROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
OMIM305371.0005 Diseasep.ASP218TYRTHROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
OMIM305371.0003 Diseasep.GLY208SERTHROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
OMIM305371.0001 Diseasep.VAL205METTHROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA



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