Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R307W
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GATA2

NM_032638.5:p.R307W

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

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.

Katsumura KR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

Roncareggi S et al.

Journal of Clinical Immunology, 2023

GATA2 mitotic bookmarking is required for definitive haematopoiesis.

Silvério-Alves R et al.

Nature Communications, 2023

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

Understanding WT1 Alterations and Expression Profiles in Hematological Malignancies.

Niktoreh N et al.

Cancers, 2023

37444601 (PubMed )
Supplement: cancers-15-03491-s001.zip › cancers-2411712-supplementary.pdf

Pathogenic human variant that dislocates GATA2 zinc fingers disrupts hematopoietic gene expression and signaling networks.

Jung MM et al.

The Journal of Clinical Investigation, 2023

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

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

Kotmayer L et al.

British Journal of Haematology, 2022

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Germline mutations among Polish patients with acute myeloid leukemia.

Bąk A et al.

Hereditary Cancer in Clinical Practice, 2021

Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome.

Cavalcante de Andrade Silva M et al.

Leukemia, 2021

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

Bresnick EH et al.

Blood Advances, 2020

GATA2 +9.5 enhancer: from principles of hematopoiesis to genetic diagnosis in precision medicine.

Soukup AA et al.

Current Opinion in Hematology, 2020

GATA2 mutations in myeloid malignancies: Two zinc fingers in many pies.

Leubolt G et al.

Iubmb Life, 2020

Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Esfahani MS et al.

Nature Communications, 2019

31836708 (PubMed )
Supplement: 41467_2019_13392_MOESM4_ESM.xlsx › Sheet1

Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC.

Mardahl M et al.

British Journal of Haematology, 2019

Transcription factor mutations as a cause of familial myeloid neoplasms.

Churpek JE et al.

The Journal of Clinical Investigation, 2019

Human leukemia mutations corrupt but do not abrogate GATA-2 function.

Katsumura KR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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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."