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|Gene Variant Descriptions||GATA2 L359V lies within the GATA-type zinc finger domain 2 of the Gata2 protein (UniProt.org). L359V results in failure to inhibit colony formation in culture (PMID: 28642594), enhanced inhibition of the regulatory element, Spi1, altering monocytic differentiation (PMID: 18250304), differential regulation of gene expression (PMID: 21892162), and reduced transactivation activity in a reporter assay in one study (PMID: 26214525), however, in other studies demonstrates transactivation levels similar to wild-type or higher than wild-type (PMID: 28642594, PMID: 22649106, PMID: 21892162), and maintains inhibition of proliferation and apoptosis in cell culture (PMID: 21892162), and therefore, its effect on Gata2 protein function is unknown.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
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