Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.D419N
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STAT6

NM_003153.5:p.D419N

Associated Papers

The CCL17-CCR4 axis is critical for mutant STAT6-mediated microenvironmental remodelling and therapeutic resistance in Relapsed/Refractory Diffuse Large B-cell Lymphoma.

Abraham MJ et al.

Cancer Immunology Research, 2025

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 › Variant_Calls

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.

Samra S et al.

The Journal of Allergy and Clinical Immunology. Global, 2025

Mutational profile dynamics in follicular lymphoma and large cell transformation.

Hesius EAM et al.

Journal of Clinical Pathology, 2025

[Mechanism of pathogenesis by a gain-of-function variant of STAT6 causing severe allergic diseases and potential for development of molecularly targeted drugs].

Yanagi K et al.

Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2025

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

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

EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.

Romero P et al.

Nature Communications, 2024

38658543 (PubMed )
Supplement: 41467_2024_47701_MOESM5_ESM.xlsx › Restricted_cohort_of_29

Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.

Unknown Author

Trends in Immunology, 2024

JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.

Ott N et al.

Journal of Clinical Immunology, 2023

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

Sharma M et al.

The Journal of Experimental Medicine, 2023

STAT6 gain-of-function variant exacerbates multiple allergic symptoms.

Takeuchi I et al.

The Journal of Allergy and Clinical Immunology, 2023

Germline STAT6 gain-of-function variants cause severe allergy.

Yamashita M et al.

The Journal of Allergy and Clinical Immunology, 2023

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

PARP14 is a novel target in STAT6 mutant follicular lymphoma.

Mentz M et al.

Leukemia, 2022

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.

Rivas-Delgado A et al.

Diagnostics (basel, Switzerland), 2022

35885481 (PubMed )
Supplement: diagnostics-12-01575-s001.zip › Supp_Files › diagnostics-1749759_Supp_Tables_R1.xlsx › Table_S2

Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.

Hatipoğlu T et al.

Frontiers in Oncology, 2022

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3

Genomic landscape of cutaneous follicular lymphomas reveals 2 subgroups with clinically predictive molecular features.

Zhou XA et al.

Blood Advances, 2021

Targeted genotyping of circulating tumor DNA for classical Hodgkin lymphoma monitoring: a prospective study.

Camus V et al.

Haematologica, 2021

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

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

Somatic mutations of cell-free circulating DNA detected by targeted next-generation sequencing and digital droplet PCR in classical Hodgkin lymphoma.

Bessi L et al.

Leukemia & Lymphoma, 2019

Analysis of the mutational landscape of classic Hodgkin lymphoma identifies disease heterogeneity and potential therapeutic targets.

Mata E et al.

Oncotarget, 2017

29340061 (PubMed )
Supplement: oncotarget-08-111386-s001.pdf

Multiplex Droplet Digital PCR Quantification of Recurrent Somatic Mutations in Diffuse Large B-Cell and Follicular Lymphoma.

Alcaide M et al.

Clinical Chemistry, 2016

Genetic Landscapes of Relapsed and Refractory Diffuse Large B-Cell Lymphomas.

Morin RD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Recurrent mutations of the STAT6 DNA binding domain in primary mediastinal B-cell lymphoma.

Ritz O et al.

Blood, 2009

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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."