Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.E151K
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TREM2

NM_018965.4:p.E151K

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_MOESM3_ESM.xlsx › Supplementary_Data_1

TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.

Yang H et al.

International Journal of Molecular Sciences, 2025

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-14.xlsx › Supplementary_Table_1

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Novotny BC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

36251323 (PubMed )
Supplement: NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx › Table_S1

Untangling the Role of TREM2 in Conjugation with Microglia in Neuronal Dysfunction: A Hypothesis on a Novel Pathway in the Pathophysiology of Alzheimer's Disease.

Basha SC et al.

Journal of Alzheimer's Disease : Jad, 2023

TREM2 coding variants in Slovak Alzheimer's disease patients.

Durmanova V et al.

Journal of Integrative Neuroscience, 2022

Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.

Li Y et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

Corcia P et al.

European Journal of Neurology, 2021

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

Gromicho M et al.

Journal of Neurology, 2020

Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4.

Margeta MA et al.

Investigative Ophthalmology & Visual Science, 2020

Endo-lysosomal dysregulations and late-onset Alzheimer's disease: impact of genetic risk factors.

Van Acker ZP et al.

Molecular Neurodegeneration, 2019

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

Del-Aguila JL et al.

Molecular Neurodegeneration, 2019

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease.

Landoulsi Z et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2018

TREM2-Dependent Effects on Microglia in Alzheimer's Disease.

Zhou Y et al.

Frontiers in Aging Neuroscience, 2018

Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation.

Song W et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017

Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.

Sirkis DW et al.

Acta Neuropathologica Communications, 2016

TREM2 is associated with increased risk for Alzheimer's disease in African Americans.

Jin SC et al.

Molecular Neurodegeneration, 2015

Coding variants in TREM2 increase risk for Alzheimer's disease.

Jin SC et al.

Human Molecular Genetics, 2014

The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population.

Arboleda-Bustos CE et al.

Alzheimer Disease and Associated Disorders, 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."