Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.F621V
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STAT3

NM_139276.3:p.F621V

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

Malignancy in STAT3 Deficient Hyper IgE Syndrome.

Urban A et al.

Journal of Clinical Immunology, 2022

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Shamriz O et al.

Frontiers in Immunology, 2022

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

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

Visualization and quantification of dynamic STAT3 homodimerization in living cells using homoFluoppi.

Okada Y et al.

Scientific Reports, 2018

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

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.

Zhang Y et al.

The Journal of Experimental Medicine, 2017

28710273 (PubMed )
Supplement: JEM_20161427_TableS1.pdf

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

Bocchini CE et al.

Blood, 2016

Consequences of the disease-related L78R mutation for dimerization and activity of STAT3.

Domoszlai T et al.

Journal of Cell Science, 2014

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

Haenen F et al.

Journal of Pediatric Genetics, 2013

STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.

He J et al.

Journal of Biosciences, 2012

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.

Wjst M et al.

European Journal of Human Genetics : Ejhg, 2009

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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