Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R361L
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GATA2

NM_032638.5:p.R361L

Associated Papers

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

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

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

GATA2 mitotic bookmarking is required for definitive haematopoiesis.

Silvério-Alves R et al.

Nature Communications, 2023

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

Santiago M et al.

Cancers, 2023

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

Kotmayer L et al.

British Journal of Haematology, 2022

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

Nakazawa H et al.

International Journal of Hematology, 2021

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.

Yoshida M et al.

British Journal of Haematology, 2020

Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Best Practice & Research. Clinical Haematology, 2020

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

Leubolt G et al.

Iubmb Life, 2020

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.

Chong CE et al.

Leukemia, 2018

28642594 (PubMed )
Supplement: leu2017196x1.docx

Heterogeneity of GATA2-related myeloid neoplasms.

Hirabayashi S et al.

International Journal of Hematology, 2017

GATA2 deficiency and related myeloid neoplasms.

Wlodarski MW et al.

Seminars in Hematology, 2017

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

Wlodarski MW et al.

Blood, 2016

GATA2 is required for lymphatic vessel valve development and maintenance.

Kazenwadel J et al.

The Journal of Clinical Investigation, 2015

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Zhang MY et al.

Haematologica, 2015

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Pasquet M et al.

Blood, 2013

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies.

Bresnick EH et al.

Nucleic Acids Research, 2012

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H et al.

British Journal of Haematology, 2012

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Kazenwadel J et al.

Blood, 2012

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Ostergaard P et al.

Nature Genetics, 2011

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