Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R136W
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TREM2

NM_018965.4:p.R136W

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

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-15.xlsx › Supplementary_Table_2

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

Kiianitsa K et al.

Brain : a Journal of Neurology, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2016-06640B1.xls › SNVIndel

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

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers.

Brase L et al.

Nature Communications, 2023

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

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

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.

Dardiotis E et al.

Neurobiology of Aging, 2017

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

Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease.

Bonham LW et al.

Neurocase, 2017

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

Sirkis DW et al.

Acta Neuropathologica Communications, 2016

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.

Piccio L et al.

Acta Neuropathologica, 2016

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."