Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.K658E
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STAT3

NM_139276.3:p.K658E

Associated Papers

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

Mackie J et al.

Clinical and Experimental Immunology, 2023

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

Bending of DNA duplexes with mutation motifs.

Růžička M et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019

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

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

Lyons JJ et al.

The Journal of Experimental Medicine, 2017

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

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD et al.

Blood, 2015

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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."