Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R52H
Back to variants list

TREM2

NM_018965.4:p.R52H

Associated Papers

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

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

Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.

Dash R et al.

Scientific Reports, 2022

35672339 (PubMed )
Supplement: 41598_2022_13120_MOESM6_ESM.doc

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

Role of TREM2 in Alzheimer's Disease: A Long Road Ahead.

Kulkarni B et al.

Molecular Neurobiology, 2021

Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants.

Dash R et al.

Scientific Reports, 2020

32107424 (PubMed )
Supplement: 41598_2020_60561_MOESM1_ESM.docx

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

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

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

Piccio L et al.

Acta Neuropathologica, 2016

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

Jin SC et al.

Molecular Neurodegeneration, 2015

25886450 (PubMed )
Supplement: 13024_2015_16_MOESM6_ESM.xlsx › Table_S13

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

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."