Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A372T
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GATA2

NM_032638.5:p.A372T

Associated Papers

Dual targeting of SLC25A51 and succinate dehydrogenase selectively depletes mitochondrial NAD+ to eradicate KRAS-driven AML.

Jia A et al.

Cell Metabolism, 2026

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

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

Long-term outcomes in FLT3-mutated acute myeloid leukemia after frontline hypomethylating agent, venetoclax and a FLT3 inhibitor.

Short NJ et al.

Haematologica, 2025

Integrating Molecular Alterations with Immunophenotype and Clinical Characteristics in Myelodysplastic Syndromes: A Single-Center Study.

Majcherek M et al.

International Journal of Molecular Sciences, 2025

40806511 (PubMed )
Supplement: ijms-26-07382-s001.zip › ijms-3714525-supplementary.pdf

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

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 myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Serine auxotrophy is a targetable vulnerability driven by PSAT1 suppression in AML.

Sinanidis I et al.

Biorxiv : the Preprint Server for Biology, 2025

40462988 (PubMed )
Supplement: media-1.pdf

Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy.

Tursky ML et al.

Plos One, 2025

40009600 (PubMed )
Supplement: pone.0318300.s003.pdf

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms.

Carretta C et al.

Leukemia, 2024

39179669 (PubMed )
Supplement: 41375_2024_2373_MOESM2_ESM.xlsx › CO480.designSummary

High frequency of GATA2 variants in patients with pulmonary fungal disease without immunocompromised risk factors: a retrospective study.

Zhuansun Y et al.

Journal of Thoracic Disease, 2024

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_4_TS_SNV

Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.

Guijarro F et al.

International Journal of Molecular Sciences, 2024

39201354 (PubMed )
Supplement: ijms-25-08669-s001.zip › ijms-3087068-supplementary › Supplementary_Tables_S1-S5.xlsx › Table_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

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

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

The different faces of GATA2 deficiency: implications for therapy and surveillance.

Vinci L et al.

Frontiers in Oncology, 2024

ABO Blood Group Antigen Changes in Acute Myeloid Leukemia and No Significant Association With RUNX1 and GATA2 Somatic Variants.

Jeong IH et al.

Annals of Laboratory Medicine, 2023

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.

Krizsán S et al.

The Journal of Molecular Diagnostics : Jmd, 2023

37088137 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_S4

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.

Pitts HA et al.

International Journal of Molecular Sciences, 2023

37298647 (PubMed )
Supplement: ijms-24-09696-s001.zip › Manuscript_SPINK2_supplementary_tables.xlsx › Table_S14

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 2023

36923434 (PubMed )
Supplement: DataSheet_1.zip › Data_Sheet_1 › Table_S2.xlsx › 1_Patients

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

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

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

Comparison of clonal architecture between primary and immunodeficient mouse-engrafted acute myeloid leukemia cells.

Kawashima N et al.

Nature Communications, 2022

In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.

Anekpuritanang T et al.

Blood Advances, 2021

34559205 (PubMed )
Supplement: advancesADV2021004983-suppl1.pdf

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report.

Haraguchi M et al.

Bmc Infectious Diseases, 2021

A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.

Docking TR et al.

Nature Communications, 2021

33931648 (PubMed )
Supplement: 41467_2021_22625_MOESM4_ESM.xlsx › Supplementary_Data_12

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.

Fenwarth L et al.

Haematologica, 2021

Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.

Schejbel L et al.

Molecular Diagnosis & Therapy, 2021

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

Bresnick EH et al.

Blood Advances, 2020

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Germline Predisposition to Hematolymphoid Neoplasia.

Weinberg OK et al.

American Journal of Clinical Pathology, 2019

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J et al.

Haematologica, 2018

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

29312904 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.

Maciejewski-Duval A et al.

Journal of Leukocyte Biology, 2016

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

Mir MA et al.

Cancer Medicine, 2015

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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."