Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.N646K
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STAT3

NM_139276.3:p.N646K

Associated Papers

The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.

Meric Z et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2026

Gain-of-Function Variant in STAT3 and Retinal Macular Edema: Insights into the IL-6 R/JAK/STAT3 Pathway in Retinal Pigment Epithelium.

Zhou Z et al.

Ocular Immunology and Inflammation, 2026

JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.

Atschekzei F et al.

Frontiers in Immunology, 2024

39247195 (PubMed )
Supplement: DataSheet1.pdf

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

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

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

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

Type 1 Diabetes in STAT Protein Family Mutations: Regulating the Th17/Treg Equilibrium and Beyond.

Fabbri M et al.

Diabetes, 2019

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

Mutations in the signal transducer and activator of transcription family of genes in cancer.

Shahmarvand N et al.

Cancer Science, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Flanagan SE et al.

Nature Genetics, 2014

Rapid and precise diagnosis of T. marneffei pulmonary infection in a HIV-negative patient with autosomal-dominant STAT3 mutation: a case report.

Zhang W et al.

Therapeutic Advances in Respiratory Disease, 0

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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."