Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.T708S
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STAT3

NM_139276.3:p.T708S

Associated Papers

Transcriptomic and multi-layer variant analysis identifies STAT3 and HIF1A as central regulators of regulated cell death pathways in lung squamous cell carcinoma.

Li X et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2026

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

Phospho-Ser727 triggers a multistep inactivation of STAT3 by rapid dissociation of pY705-SH2 through C-terminal tail modulation.

Yang J et al.

International Immunology, 2020

Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.

Deng Y et al.

Medicine, 2019

Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?

de Silva R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018

Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.

Wu J et al.

Journal of Clinical Immunology, 2017

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Bocchini CE et al.

Blood, 2016

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

Haenen F et al.

Journal of Pediatric Genetics, 2013

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

Woellner C et al.

The Journal of Allergy and Clinical Immunology, 2010

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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."