Gene Variant Detail

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Gene GATA2
Variant A318T
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions GATA2 A318T lies within the GATA-type zinc finger domain 1 of the Gata2 protein (UniProt.org). A318T results in decreased expression of Gata2 target genes, leading to decreased erythroid proliferation, and increased induction of granulocytes, cellular formation, and myeloid proliferation in culture (PMID: 30301799).
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128483925C>T
cDNA c.952G>A
Protein p.A318T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032638 chr3:g.128483925C>T c.952G>A p.A318T RefSeq GRCh38/hg38
NM_001145662 chr3:g.128483925C>T c.952G>A p.A318T RefSeq GRCh38/hg38
NM_001145661 chr3:g.128483925C>T c.952G>A p.A318T 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 Protein Effect Treatment Approaches
GATA2 A318T loss of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References