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Results for the Protein: P23769
229462971

GATA2_HUMAN RecName: Full=Endothelial transcription factor GATA-2; AltName: Full=GATA-binding protein 2

Known Diseases associated with this Protein:
  DEFICIENCY
  DENDRITIC CELL MONOCYTE LYMPHOCYTE B AND NATURAL KILLER LYMPHOCYTE DEFICIENCY (DCML)
  DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE
  LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
  LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (LMPM)
  MYELODYSPLASTIC SYNDROME (MDS)
  MYELODYSPLASTIC SYNDROME, SUSCEPTIBIL
11
2
6
2
5
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ZnF_GATA - smart00401
ZnF_GATA - cd00202
GATA - pfam00320


Swiss-Prot Protein: P23769
Identical to: NP_116027, NP_001139133
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_GATAcd002026.5e-22294346
ZnF_GATAcd002021.1e-25348399
GATApfam003208.3e-18295329
GATApfam003205.5e-19349383
ZnF_GATAsmart004017.4e-21290339
ZnF_GATAsmart004011.1e-24344393

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2335052 Polymorphismp.ALA164THRN/A
Swiss-ProtVAR_066644Diseasep.ARG361PROLymphedema, primary, with myelodysplasia (LMPM)
Swiss-ProtVAR_066407Diseasep.ARG398TRPDendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML)
Swiss-ProtVAR_066645Diseasep.CYS373ARGLymphedema, primary, with myelodysplasia (LMPM)
Swiss-ProtVAR_066405Diseasep.PRO254LEUDendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML)
dbSNPrs35079193 Polymorphismp.THR235ASNN/A
Swiss-ProtVAR_066406Diseasep.THR354METMyelodysplastic syndrome (MDS)
OMIM137295.0013 Diseasep.ARG361LEULYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM137295.0011 Diseasep.ARG337TERLYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM137295.0001 Diseasep.ARG398TRPDENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE||DEFICIENCY
OMIM137295.0012 Diseasep.CYS373ARGLYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM137295.0003 Diseasep.PRO254LEUDENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE||DEFICIENCY
OMIM137295.0002 Diseasep.THR354METDENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE||DEFICIENCY||MYELODYSPLASTIC SYNDROME, SUSCEPTIBIL



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