Gene Variant Detail

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Gene GATA2
Variant S54W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions GATA2 S54W does not lie within any known functional domains of the Gata2 protein (UniPort.org). S54W has not been characterized in the scientific literature and therefore, its effect on Gata2 protein function is unknown (PubMed, Sep 2018).
Associated Drug Resistance

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Transcript NM_032638
gDNA chr3:g.128486871G>C
cDNA c.161C>G
Protein p.S54W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145662 chr3:g.128486871G>C c.161C>G p.S54W RefSeq GRCh38/hg38
NM_032638 chr3:g.128486871G>C c.161C>G p.S54W RefSeq GRCh38/hg38
NM_001145661 chr3:g.128486871G>C c.161C>G p.S54W 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 S54W unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References