Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R308P
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GATA2

NM_032638.5:p.R308P

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

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

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

A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.

West RR et al.

Blood Advances, 2023

Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.

Wang Y et al.

Clinical and Translational Medicine, 2023

37345307 (PubMed )
Supplement: CTM2-13-e1309-s003.xlsx › Table_1

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Impairment of the Hypothalamus-Pituitary-Thyroid Axis Caused by Naturally Occurring GATA2 Mutations In Vitro.

Sakai Y et al.

International Journal of Molecular Sciences, 2021

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Bresnick EH et al.

Blood Advances, 2020

Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.

Baptista RLR et al.

Frontiers in Oncology, 2017

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski MW et al.

Blood, 2016

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.

Mir MA et al.

Cancer Medicine, 2015

GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations.

Green CL et al.

British Journal of Haematology, 2013

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

GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation.

Niimi K et al.

Leukemia Research Reports, 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."