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Gene GATA2
Variant P228L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions GATA2 P228L does not lie within any known functional domains of the Gata2 protein (UniProt.org). P228L has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized 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.128485915G>A
cDNA c.683C>T
Protein p.P228L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145661 chr3:g.128485915G>A c.683C>T p.P228L RefSeq GRCh38/hg38
NM_001145662 chr3:g.128485915G>A c.683C>T p.P228L RefSeq GRCh38/hg38
NM_032638 chr3:g.128485915G>A c.683C>T p.P228L 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 P228L unknown