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Gene GATA2
Variant T354M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions GATA2 T354M lies within the GATA-type zinc finger domain 2 of the Gata2 protein (UniProt.org). T354M results in reduced binding of Gata2 to DNA (PMID: 26214525), inhibition of cell differentiation and apoptosis (PMID: 21892162), and decreased transcriptional activation, leading to increased myeloid proliferation and colony formation in culture (PMID: 30301799).
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128481901G>A
cDNA c.1061C>T
Protein p.T354M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145661 chr3:g.128481901G>A c.1061C>T p.T354M RefSeq GRCh38/hg38
NM_032638 chr3:g.128481901G>A c.1061C>T p.T354M RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
GATA2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic GATA2 frameshift, nonsense, or splice site mutations, or missense mutations in codons 349-398 are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
GATA2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, GATA2 germline mutations were shown to be a risk factor for the development of acute myeloid leukemia following myelodysplastic syndrome (PMID: 21892162, PMID: 22271902, PMID: 22147895, PMID: 22533337). 22533337 22271902 22147895 21892162
Molecular Profile Protein Effect Treatment Approaches
GATA2 T354M loss of function
CEBPA mut GATA2 T354M