Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.T620S
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STAT3

NM_139276.3:p.T620S

Associated Papers

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.

Fan H et al.

Frontiers in Immunology, 2025

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

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

Asano T et al.

The Journal of Experimental Medicine, 2021

34137790 (PubMed )
Supplement: JEM_20202592_TableS3.xlsx › Table_S2

Clinicobiological Characteristics and Outcomes of Patients with T-Cell Large Granular Lymphocytic Leukemia and Chronic Lymphoproliferative Disorder of Natural Killer Cells from a Single Institution.

Rivero A et al.

Cancers, 2021

Autosomal dominant hyper IgE syndrome from a single centre in Chongqing, China (2009-2018).

Xiang Q et al.

Scandinavian Journal of Immunology, 2020

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

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

Deng Y et al.

Medicine, 2019

The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome.

Yanagimachi M et al.

Journal of Clinical Immunology, 2016

Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China.

Zhang LY et al.

Scandinavian Journal of Immunology, 2013

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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."