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Gene GATA2
Variant A198V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions GATA2 A198V lies within the negative regulatory domain of the Gata2 protein (PMID: 22786876). A198V has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, May 2020).
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128486005G>A
cDNA c.593C>T
Protein p.A198V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145662 chr3:g.128486005G>A c.593C>T p.A198V RefSeq GRCh38/hg38
NM_001145661 chr3:g.128486005G>A c.593C>T p.A198V RefSeq GRCh38/hg38
NM_032638 chr3:g.128486005G>A c.593C>T p.A198V 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
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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 A198V unknown