Gene Variant Detail

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Gene GATA2
Variant P304H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions GATA2 L304H lies within the DNA-binding domain of the Gata2 protein (PMID: 27389056). L304H confers a loss of function to the Gata2 protein as demonstrated by decreased Gata2 transcriptional activity and increased erythroid lineage differentiation in cell culture (PMID: 27389056).
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128483966G>T
cDNA c.911C>A
Protein p.P304H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145661 chr3:g.128483966G>T c.911C>A p.P304H RefSeq GRCh38/hg38
NM_032638 chr3:g.128483966G>T c.911C>A p.P304H RefSeq GRCh38/hg38
NM_001145662 chr3:g.128483966G>T c.911C>A p.P304H 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 P304H loss of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References