Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.T354M
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GATA2

NM_032638.5:p.T354M

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

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

GATA2 mutation is associated with immune dysfunction and increased Mycobacterium haemophilum susceptibility in immunocompromised individuals.

Gupta A et al.

Jci Insight, 2025

A Case Report of Systemic Lupus Erythematosus in GATA2 Deficiency: Expanding the Spectrum of Rheumatological Features.

Samanta J et al.

International Journal of Rheumatic Diseases, 2025

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM3_ESM.xlsx › Sheet1

Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.

Lahtinen AK et al.

British Journal of Haematology, 2025

40506802 (PubMed )
Supplement: BJH-207-636-s001.docx

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.

Wang TY et al.

Molecular Cytogenetics, 2025

40069757 (PubMed )
Supplement: 13039_2025_708_MOESM1_ESM.pdf

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

Bąbol-Pokora K et al.

Frontiers in Immunology, 2025

Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.

Han X et al.

Annals of Hematology, 2024

Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.

Kubota Y et al.

Annals of Hematology, 2024

GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.

Rukerd MRZ et al.

Bmc Infectious Diseases, 2024

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.

Wu L et al.

Bmc Infectious Diseases, 2024

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

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts

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

West RR et al.

Blood Advances, 2023

GATA2 mitotic bookmarking is required for definitive haematopoiesis.

Silvério-Alves R et al.

Nature Communications, 2023

GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.

Rajput RV et al.

Current Hematologic Malignancy Reports, 2023

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

The spectrum of GATA2 deficiency syndrome.

Calvo KR et al.

Blood, 2023

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Santiago M et al.

Cancers, 2023

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Saygin C et al.

Blood Advances, 2023

36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf

Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.

Lahtinen AK et al.

Bone Marrow Transplantation, 2023

36195768 (PubMed )
Supplement: 41409_2022_1828_MOESM1_ESM.docx

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella JR et al.

Frontiers in Oncology, 2023

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.

Huang X et al.

Frontiers in Immunology, 2023

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

Kotmayer L et al.

British Journal of Haematology, 2022

Facial lymphoedema, viral warts, and myelodysplastic syndrome: the protean condition of GATA2 deficiency.

Rudd EC et al.

Lancet (london, England), 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM1_ESM.pdf

Heterozygous variants in GATA2 contribute to DCML deficiency in mice by disrupting tandem protein binding.

Hasegawa A et al.

Communications Biology, 2022

miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.

Wang W et al.

Journal of Leukocyte Biology, 2022

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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."