Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.K658R
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STAT3

NM_139276.3:p.K658R

Associated Papers

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.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

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 › S10

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Mutational heterogeneities in STAT3 and clonal hematopoiesis-related genes in acquired pure red cell aplasia.

Kawakami T et al.

Annals of Hematology, 2025

40202536 (PubMed )
Supplement: 277_2025_6356_MOESM3_ESM.xlsx › S4

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

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

Jeanpierre M et al.

The Journal of Experimental Medicine, 2024

39028869 (PubMed )
Supplement: JEM_20232337_TableS4.xlsx › Table._Supp4

CCL22 mutations in large granular lymphocytic leukemia.

Mizuno Y et al.

Haematologica, 2024

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Palmisani E et al.

Hemasphere, 2023

Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers.

Böck J et al.

Frontiers in Oncology, 2023

37664054 (PubMed )
Supplement: Table_1.xlsx › Table_S2

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

Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation.

Teramo A et al.

Nature Communications, 2022

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Miano M et al.

Frontiers in Immunology, 2022

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Guevara-Hoyer K et al.

Frontiers in Immunology, 2022

35990641 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_1

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

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure.

Dell'Orso G et al.

Frontiers in Immunology, 2021

Large granular lymphocyte leukemia serum and corresponding hematological parameters reveal unique cytokine and sphingolipid biomarkers and associations with STAT3 mutations.

Olson KC et al.

Cancer Medicine, 2020

Molecular Genetics in the Diagnosis and Biology of Lymphoid Neoplasms.

Lim MS et al.

American Journal of Clinical Pathology, 2019

STAT3 mutation impacts biological and clinical features of T-LGL leukemia.

Teramo A et al.

Oncotarget, 2017

The analysis of clonal diversity and therapy responses using STAT3 mutations as a molecular marker in large granular lymphocytic leukemia.

Rajala HL et al.

Haematologica, 2015

Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.

Kristensen T et al.

The Journal of Molecular Diagnostics : Jmd, 2014

A novel missense (M206K) STAT3 mutation in diffuse large B cell lymphoma deregulates STAT3 signaling.

Hu G et al.

Plos One, 2013

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