Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.Q282*
Back to variants list

GATA2

NM_032638.5:p.Q282*

Associated Papers

Myelodysplastic neoplasms with unbalanced whole-arm translocation der(5;19)(p10;q10): association with double-hit TP53 mutations.

Kojima K et al.

International Journal of Hematology, 2025

Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.

Haberecker M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

35864317 (PubMed )
Supplement: 41379_2022_1133_MOESM1_ESM.pdf

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

West RR et al.

Blood Advances, 2022

34529785 (PubMed )
Supplement: advancesADV2021005065-suppl1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."