Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.D39E
Back to variants list

TREM2

NM_018965.4:p.D39E

Associated Papers

Alterations in the brain lipidome of Alzheimer's disease donors with rare TREM2 risk variants.

Proitsi P et al.

Brain Communications, 2026

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

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

Yang H et al.

International Journal of Molecular Sciences, 2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

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

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

Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.

Tábuas-Pereira M et al.

Frontiers in Neurology, 2022

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

Margeta MA et al.

Investigative Ophthalmology & Visual Science, 2020

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

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

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.

Cuyvers E et al.

Neurobiology of Aging, 2014

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

Pottier C et al.

Journal of Alzheimer's Disease : Jad, 2013

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."