Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.R308*
Back to variants list

TBK1

NM_013254.4:p.R308*

Associated Papers

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

Kilic SS et al.

Journal of Human Immunity, 2026

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

Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.

Robinson JL et al.

Acta Neuropathologica, 2024

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Libonati L et al.

Journal of Neurology, 2024

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Zhang Q et al.

Science (new York, N.y.), 2020

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."