Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.V637A
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STAT3

NM_139276.3:p.V637A

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

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.

Carrabba M et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

36211402 (PubMed )
Supplement: DataSheet_1.pdf

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

Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Karube K et al.

Leukemia, 2018

28804123 (PubMed )
Supplement: leu2017251x2.xlsx › Table_S15

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

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

Bocchini CE et al.

Blood, 2016

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

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."