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Gene GATA2
Variant A478T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions GATA2 A478T does not lie within any known functional domains of the Gata2 protein (UniProt.org). A478T has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Nov 2020).
Associated Drug Resistance

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Transcript NM_032638.4
gDNA chr3:g.128481030C>T
cDNA c.1432G>A
Protein p.A478T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145661.1 chr3:g.128481030C>T c.1432G>A p.A478T RefSeq GRCh38/hg38
NM_032638 chr3:g.128481030C>T c.1432G>A p.A478T RefSeq GRCh38/hg38
NM_032638.4 chr3:g.128481030C>T c.1432G>A p.A478T RefSeq GRCh38/hg38
NM_001145661 chr3:g.128481030C>T c.1432G>A p.A478T 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 A478T unknown