Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.H322Y
Back to variants list

TBK1

NM_013254.4:p.H322Y

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2

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

Zhao B et al.

European Journal of Neurology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.

Khatoon F et al.

3 Biotech, 2022

Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.

Su WM et al.

Bmc Medicine, 2022

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R et al.

Human Genome Variation, 2021

33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results

Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis.

Weinreich M et al.

Neuropathology and Applied Neurobiology, 2020

Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.

McCombe PA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

30196251 (PubMed )
Supplement: jnnp-2018-318823supp001.pdf

Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.

Yu H et al.

Molecular Genetics & Genomic Medicine, 2019

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.

Verheijen J et al.

Neurobiology of Aging, 2018

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Chia R et al.

The Lancet. Neurology, 2018

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Pozzi L et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J et al.

Human Mutation, 2017

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

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.

Gijselinck I et al.

Neurology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."