Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.N647I
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STAT3

NM_139276.3:p.N647I

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Reference_Standard

Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.

Bravo-Perez C et al.

The Journal of Clinical Investigation, 2025

40309770 (PubMed )
Supplement: jci-135-184431-s106.xlsx › Table_S5

Efficacy and influencing factors of immunosuppressive therapy for pure red cell aplasia: meta-analysis and systematic review.

Yusup M et al.

Annals of Hematology, 2025

Clinical features and outcomes in large granular lymphocyte leukemia - associated pure red cell aplasia with STAT3 mutation.

Liu X et al.

Annals of Hematology, 2025

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

Single Cell Resolution Tracking of Cutaneous T-Cell Lymphoma Reveals Clonal Evolution in Disease Progression.

Dorando HK et al.

Biorxiv : the Preprint Server for Biology, 2025

ALK-negative anaplastic large cell lymphoma with TP53 mutation developing during the administration of baricitinib for atopic dermatitis - A case report.

Kawai H et al.

Journal of Clinical and Experimental Hematopathology : Jceh, 2025

HSP and CD279 gene expression as candidate biomarkers in symptomatic LGLL patients.

Talarico G et al.

Discover Oncology, 2024

Integrated Clinical Genotype-Phenotype Characteristics of STAT3-Mutated Myeloid Neoplasms.

Ye MT et al.

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

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

Pro-inflammatory cells sustain leukemic clonal expansion in T-cell large granular lymphocyte leukemia.

Vicenzetto C et al.

Haematologica, 2024

37439335 (PubMed )
Supplement: 2022_282306_VICENZETTO_SUPPL.pdf

Gamma-delta T-cell large granular lymphocytic leukemia in the setting of rheumatologic diseases.

Gorodetskiy V et al.

Frontiers in Cell and Developmental Biology, 2024

Genomic landscape of T-large granular lymphocyte leukemia and chronic lymphoproliferative disorder of NK cells: a single institution experience.

Fei F et al.

Leukemia & Lymphoma, 2023

Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Park S et al.

Scientific Reports, 2023

A case report of T-LGL leukemia-associated pure red cell aplasia harboring STAT3, TNFAIP3, and KMT2D mutation.

Shen M

Translational Cancer Research, 2023

The ups and downs of STAT3 function: too much, too little and human immune dysregulation.

Mackie J et al.

Clinical and Experimental Immunology, 2023

Dynamics of Age- versus Therapy-Related Clonal Hematopoiesis in Long-term Survivors of Pediatric Cancer.

Hagiwara K et al.

Cancer Discovery, 2023

Tγδ LGLL identifies a subset with more symptomatic disease: analysis of an international cohort of 137 patients.

Barilà G et al.

Blood, 2023

Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.

Oishi N et al.

Blood Advances, 2023

35882439 (PubMed )
Supplement: BLOODA_ADV-2022-007541-mmc2.xlsx › Sheet1

Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.

López-Nevado M et al.

Journal of Clinical Immunology, 2023

Clinical Study of the Relationship between Sjögren Syndrome and T-Cell Large Granular Lymphocytic Leukemia: Single-Center Experience.

Gorodetskiy V et al.

International Journal of Molecular Sciences, 2022

All that glitters is not LGL Leukemia.

Semenzato G et al.

Leukemia, 2022

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST3

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia.

Cheon H et al.

Blood, 2022

miR-181a is a novel player in the STAT3-mediated survival network of TCRαβ+ CD8+ T large granular lymphocyte leukemia.

Assmann JLJC et al.

Leukemia, 2022

34873301 (PubMed )
Supplement: 41375_2021_1480_MOESM2_ESM.pdf

Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL.

Blombery P et al.

Blood, 2022

34469514 (PubMed )
Supplement: mmc1.pdf

Somatic STAT3 mutations in CD8+ T cells of healthy blood donors carrying human T-cell leukemia virus type 2.

Kim D et al.

Haematologica, 2022

STAT3 mutations in "gray-zone" cases of T-cell large granular lymphocytic leukemia associated with autoimmune rheumatic diseases.

Gorodetskiy V et al.

Frontiers in Medicine, 2022

High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls.

Valori M et al.

Plos One, 2022

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Avramović V et al.

Human Genomics, 2021

34906245 (PubMed )
Supplement: 40246_2021_371_MOESM1_ESM.xlsx › S5

MAPK and JAK-STAT pathways dysregulation in plasmablastic lymphoma.

Ramis-Zaldivar JE et al.

Haematologica, 2021

33951889 (PubMed )
Supplement: 2020_271957_RAMIS-ZALDIVAR_SUPPL_TableS5.xlsx › 194_Mutations

Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Yamagishi M et al.

Nature Communications, 2021

34376672 (PubMed )
Supplement: 41467_2021_25101_MOESM6_ESM.xlsx › Sup_Data_4

[Clinical characteristics of T-cell large granular lymphoblastic leukemia with STAT3 gene mutation].

Liu HL et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma.

Garcia-Reyero J et al.

Haematologica, 2021

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Sakihama S et al.

Cancer Science, 2021

33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4
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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."