Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.R357*
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TBK1

NM_013254.4:p.R357*

Associated Papers

Exploring TANK-Binding Kinase 1 in Amyotrophic Lateral Sclerosis: From Structural Mechanisms to Machine Learning-Guided Therapeutics.

Anjum F et al.

Life (basel, Switzerland), 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.

Zhao B et al.

European Journal of Neurology, 2023

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Ruf WP et al.

Brain Communications, 2023

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.

Swift IJ et al.

Neurobiology of Aging, 2021

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

de Majo M et al.

Neurobiology of Aging, 2018

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

Tohnai G et al.

Neurobiology of Aging, 2018

TBK1: a new player in ALS linking autophagy and neuroinflammation.

Oakes JA et al.

Molecular Brain, 2017

28148298 (PubMed )
Supplement: 13041_2017_287_MOESM1_ESM.pdf

Human TBK1: A Gatekeeper of Neuroinflammation.

Ahmad L et al.

Trends in Molecular Medicine, 2016

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."