Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.E616del1
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STAT3

NM_139276.3:p.E616del1

Associated Papers

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

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

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

Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.

Rivas-Delgado A et al.

Hemasphere, 2024

39380845 (PubMed )
Supplement: HEM3-8-e70024-s001.xlsx › ST7

Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.

Özoğul E et al.

Blood Cancer Journal, 2024

39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S10

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s002.xlsx › Sheet1

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Leiding JW et al.

The Journal of Allergy and Clinical Immunology, 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

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 › ST4

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

35572515 (PubMed )
Supplement: Table_2.xlsx › S5

A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.

Deng 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_2

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

Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.

Gothe F et al.

Pediatric Pulmonology, 2021

Targeted Deep Sequencing of Mycosis Fungoides Reveals Intracellular Signaling Pathways Associated with Aggressiveness and Large Cell Transformation.

Wobser M et al.

Cancers, 2021

Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Frontzek F et al.

Nature Communications, 2021

34465776 (PubMed )
Supplement: 41467_2021_25405_MOESM9_ESM.xlsx › Targeted_resequencing_results

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.

Domené S et al.

Cells, 2021

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

Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

Massoth LR et al.

The Oncologist, 2021

33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants

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

Tanita K et al.

Journal of Clinical Immunology, 2021

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

Tanita K et al.

Journal of Clinical Immunology, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.

Rosenthal SH et al.

Plos One, 2021

33909614 (PubMed )
Supplement: pone.0243683.s005.xlsx › S5A

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Perne C et al.

Plos One, 2021

34843512 (PubMed )
Supplement: pone.0259185.s008.xlsx › Tabelle1

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Ren Y et al.

Genomics, Proteomics & Bioinformatics, 2020

32428603 (PubMed )
Supplement: mmc6.xlsx › HD701

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.

Gutiérrez M et al.

Molecular and Cellular Endocrinology, 2018

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM5_ESM.xlsx › ANKL4

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Past, Present, and Future in the Relationship between Growth Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting.

Jasper H

Hormone Research in Paediatrics, 2016

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

Uncovering the pathogenesis of large granular lymphocytic leukemia-novel STAT3 and STAT5b mutations.

Rajala HL et al.

Annals of Medicine, 2014

STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model.

Couronné L et al.

Haematologica, 2013

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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."