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Gene GATA2
Variant G150Efs*68
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions GATA2 G150Efs*68 indicates a shift in the reading frame starting at amino acid 150 and terminating 68 residues downstream causing a premature truncation of the 480 amino acid Gata2 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G150Efs*68 is predicted to lead to a loss of Gata2 protein function.
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128486153delC
cDNA c.449delG
Protein p.G150Efs*68
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145662 chr3:g.128486153delC c.449delG p.G150Efs*68 RefSeq GRCh38/hg38
NM_032638 chr3:g.128486153delC c.449delG p.G150Efs*68 RefSeq GRCh38/hg38
NM_001145661 chr3:g.128486153delC c.449delG p.G150Efs*68 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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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 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
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...
Molecular Profile Protein Effect Treatment Approaches
GATA2 G150Efs*68 loss of function - predicted