Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.K390del1
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GATA2

NM_032638.5:p.K390del1

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

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_MOESM8_ESM.xlsx › Sheet1

Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms.

Kim HY et al.

Journal of Clinical Medicine, 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

Somatic genetic alterations predict hematological progression in GATA2 deficiency.

Largeaud L et al.

Haematologica, 2023

36727400 (PubMed )
Supplement: 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx › Details

Multiple Simultaneous Infections With Nontuberculous Mycobacteria in the Setting of GATA2 Mutation and Myelodysplastic Syndrome.

Tabaja H et al.

Open Forum Infectious Diseases, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF et al.

Journal of Clinical Immunology, 2022

Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Kozyra EJ et al.

Blood, 2021

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S1

Clinical and biological characteristics and prognostic impact of somatic GATA2 mutations in myeloid malignancies: a single institution experience.

Nanaa A et al.

Blood Cancer Journal, 2021

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

Bi L et al.

Oncology Letters, 2021

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

Bresnick EH et al.

Blood Advances, 2020

Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype.

Alfayez M et al.

Leukemia & Lymphoma, 2019

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.

Chase A et al.

Leukemia, 2019

Can somatic GATA2 mutation mimic germ line GATA2 mutation?

Sekhar M et al.

Blood Advances, 2018

Application of an NGS-based 28-gene panel in myeloproliferative neoplasms reveals distinct mutation patterns in essential thrombocythaemia, primary myelofibrosis and polycythaemia vera.

Delic S et al.

British Journal of Haematology, 2016

27447873 (PubMed )
Supplement: supplement_1.doc

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

DiNardo CD et al.

Clinical Lymphoma, Myeloma & Leukemia, 2016

GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

Wang X et al.

Haematologica, 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."