Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.N647D
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STAT3

NM_139276.3:p.N647D

Associated Papers

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

The ups and downs of STAT3 function: too much, too little and human immune dysregulation.

Mackie J et al.

Clinical and Experimental Immunology, 2023

Aberrant function of pathogenic STAT3 mutant proteins is linked to altered stability of monomers and homodimers.

Kasembeli MM et al.

Blood, 2023

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Staphylococcus aureus and Hyper-IgE Syndrome.

Park B et al.

International Journal of Molecular Sciences, 2020

STAT3 modulates reprogramming efficiency of human somatic cells; insights from autosomal dominant Hyper IgE syndrome caused by STAT3 mutations.

Yu Z et al.

Biology Open, 2020

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

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ et al.

The Journal of Experimental Medicine, 2017

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

Bocchini CE et al.

Blood, 2016

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

Chandrasekaran P et al.

The Journal of Allergy and Clinical Immunology, 2016

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS et al.

The Journal of Experimental Medicine, 2016

27401342 (PubMed )
Supplement: supp_jem.20151467_JEM_20151467_sm.pdf

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

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

Haenen F et al.

Journal of Pediatric Genetics, 2013

Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.

Paulson ML et al.

Current Opinion in Allergy and Clinical Immunology, 2008

STAT3 mutations in the hyper-IgE syndrome.

Holland SM et al.

The New England Journal of Medicine, 2007

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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."