Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.S151C
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TBK1

NM_013254.4:p.S151C

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs

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

Prospects for gene replacement therapies in amyotrophic lateral sclerosis.

Giovannelli I et al.

Nature Reviews. Neurology, 2023

ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.

Harding O et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34099552 (PubMed )
Supplement: pnas.2025053118.sapp.pdf

Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity.

Ye J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

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

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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."