Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.P639S
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STAT3

NM_139276.3:p.P639S

Associated Papers

Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.

Molnár E et al.

The Journal of Allergy and Clinical Immunology. Global, 2026

Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities.

Li SY et al.

Heliyon, 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

STAT3 c.1915C > T variant-associated Hyper-IgE syndrome in a child: a case report.

Dai Q et al.

Frontiers in Pediatrics, 2025

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Chaimowitz NS et al.

Frontiers in Pediatrics, 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

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA et al.

Journal of Medical Genetics, 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

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

Chandesris MO et al.

Medicine, 2012

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

Woellner C et al.

The Journal of Allergy and Clinical Immunology, 2010

The TSH receptor and its role in thyroid disease.

Kopp P

Cellular and Molecular Life Sciences : Cmls, 2001

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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."