Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.K489E
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OPTN

NM_001008212.2:p.K489E

Associated Papers

Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.

Khurana S et al.

Brain Communications, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Deciphering ALS-linked genetic variants in indian patients using targeted and exome sequencing approaches.

Reza S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

Deleterious Sequestosome 1 mutations G262R and P438L in amyotrophic lateral sclerosis cause autophagy and oxidative stress imbalance.

Singh N et al.

Neuroscience, 2025

Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.

Katragadda P et al.

Journal of Movement Disorders, 2025

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

Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.

Mishra D et al.

Molecular and Cellular Neurosciences, 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_7_VUS

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

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Feng SM et al.

Annals of Clinical and Translational Neurology, 2019

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Narain P et al.

Neurobiology of Aging, 2018

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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."