Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R330L
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GATA2

NM_032638.5:p.R330L

Associated Papers

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

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

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

CEBPA and GATA2 mutation and a transient blood group discrepancy in a patient with acute myeloid leukaemia.

Flores-Morán MS et al.

Transfusion Medicine (oxford, England), 2024

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

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

Santiago M et al.

Cancers, 2023

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

Kawashima N et al.

Nature Communications, 2022

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Therapy-related myeloid neoplasms in 109 patients after radiation monotherapy.

Patel AA et al.

Blood Advances, 2021

34492705 (PubMed )
Supplement: advancesADV2021004964-suppl1.pdf

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Caprioli C et al.

Haematologica, 2021

32855275 (PubMed )
Supplement: 2020_252825_CAPRIOLI_SUPPL.pdf

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

Bresnick EH et al.

Blood Advances, 2020

Bioinformatics interpretation of exome sequencing: blood cancer.

Kim J et al.

Genomics & Informatics, 2013

23613679 (PubMed )
Supplement: gni-11-24-s001.pdf
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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."