Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.N317S
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GATA2

NM_032638.5:p.N317S

Associated Papers

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Multiomic single cell sequencing identifies stemlike nature of mixed phenotype acute leukemia.

Peretz CAC et al.

Nature Communications, 2024

39294124 (PubMed )
Supplement: 41467_2024_52317_MOESM15_ESM.xlsx › Sheet2

Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.

Ronchini C et al.

Cancer Reports (hoboken, N.j.), 2024

GATA2 mutant variant allele frequency may reflect prognosis in Chinese adult patients with de novo cytogenetically normal acute myeloid leukemia.

Ren H et al.

Biomolecules & Biomedicine, 2024

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Multiomic Single Cell Sequencing Identifies Stemlike Nature of Mixed Phenotype Acute Leukemia and Provides Novel Risk Stratification.

Peretz CAC et al.

Biorxiv : the Preprint Server for Biology, 2023

37292835 (PubMed )
Supplement: media-1.pdf

GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.

Kotmayer L et al.

British Journal of Haematology, 2022

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

A patient with a germline GATA2 mutation and primary myelofibrosis.

Rütsche CV et al.

Blood Advances, 2021

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

33145402 (PubMed )
Supplement: 41523_2020_201_MOESM2_ESM.xlsx › Supplementary_Table_1

Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype.

Alfayez M et al.

Leukemia & Lymphoma, 2019

The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Ibáñez M et al.

Plos One, 2018

30303964 (PubMed )
Supplement: pone.0202926.s006.pdf

The genomic landscape of juvenile myelomonocytic leukemia.

Stieglitz E et al.

Nature Genetics, 2015

GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis.

Fasan A et al.

Leukemia, 2013

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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."