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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), and reduced transactivation activity in a reporter assay in one study (PMID: 26214525), however, in another study demonstrates transactivation levels similar to wild-type or higher than wild-type (PMID: 28642594), and therefore, its effect on Gata2 protein function is unknown.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Protein Effect||Treatment Approaches|
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