Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.K642E
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STAT3

NM_139276.3:p.K642E

Associated Papers

Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome.

Fujita D et al.

Frontiers in Immunology, 2025

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

Asano T et al.

The Journal of Experimental Medicine, 2021

KIT and Melanoma: Biological Insights and Clinical Implications.

Pham DDM et al.

Yonsei Medical Journal, 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

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

Bocchini CE et al.

Blood, 2016

Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Creixell P et al.

Cell, 2015

26388441 (PubMed )
Supplement: mmc9.xlsx › COSMIC_v67MappedToEnsembl_right

Gastrointestinal stromal tumor - an evolving concept.

Tornillo L

Frontiers in Medicine, 2014

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

Molecular dynamics studies of the STAT3 homodimer:DNA complex: relationships between STAT3 mutations and protein-DNA recognition.

Husby J et al.

Journal of Chemical Information and Modeling, 2012

Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency.

Chandesris MO et al.

Circulation. Cardiovascular Genetics, 2012

Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors.

Bachet JB et al.

The Application of Clinical Genetics, 2010

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

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L et al.

The Journal of Experimental Medicine, 2008

18591412 (PubMed )
Supplement: jem.20080321_5.pdf
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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."