Gene Variant Detail

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Gene GATA2
Variant R362Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions GATA2 R362Q lies within the GATA-type zinc finger domain 2 of the Gata2 protein (UniProt.org). R362Q results in similar restricted macrophage differentiation, but greater erythroid differentiation compared to wild-type Gata2, leads to reduced transactivation in reporter assays, and fails to inhibit granulocyte differentiation in cell culture (PMID: 26214525, PMID: 28642594), however, is conflicting, as it demonstrates decreased DNA-binding in one study (PMID: 28642594), but shows DNA-binding similar to wild-type in another study (PMID: 26214525), and therefore, its effect on Gata2 protein function is unknown.
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128481877C>T
cDNA c.1085G>A
Protein p.R362Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145661 chr3:g.128481877C>T c.1085G>A p.R362Q RefSeq GRCh38/hg38
NM_032638 chr3:g.128481877C>T c.1085G>A p.R362Q 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 R362Q unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References