Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.G159A
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TBK1

NM_013254.4:p.G159A

Associated Papers

Recurrent severe viral infection in a child with inherited complete TBK1 deficiency.

Kilic SS et al.

Journal of Human Immunity, 2026

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.

Cildir G et al.

Nature Communications, 2024

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

Inborn errors of autophagy and infectious diseases.

Sabli IK et al.

Current Opinion in Immunology, 2021

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.

Taft J et al.

Cell, 2021

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

Mørk N et al.

Genes and Immunity, 2015

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK et al.

Neurology, 2014

Immune diseases caused by mutations in kinases and components of the ubiquitin system.

Cohen P

Nature Immunology, 2014

Toll-like receptors' pathway disturbances are associated with increased susceptibility to infections in humans.

Frazão JB et al.

Archivum Immunologiae Et Therapiae Experimentalis, 2013

Human primary immunodeficiencies causing defects in innate immunity.

Wong T et al.

Current Opinion in Allergy and Clinical Immunology, 2013

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.

Herman M et al.

The Journal of Experimental Medicine, 2012

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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."