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|Synonyms||DCML | IMD21 | MONOMAC | NFE1B|
|Gene Description||GATA2, GATA binding protein 2, is a zinc-finger transcription factor that plays a central role in regulating the proliferation, differentiation, and survival of hematopoietic stem cells (PMID: 22192845, PMID: 32205587). Mutations in GATA2 are associated with myelodysplastic syndrome and leukemia (PMID: 22192845, PMID: 31785092) and decreased expression has been associated with melanoma progression (PMID: 29156497).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|inact mut||unknown||loss of function||GATA2 inact mut indicates that this variant results in a loss of function of the Gata2 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||GATA2 mutant indicates an unspecified mutation in the GATA2 gene.|