Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R136Q
Back to variants list

TREM2

NM_018965.4:p.R136Q

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

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

AlzDiscovery: A computational tool to identify Alzheimer's disease-causing missense mutations using protein structure information.

Pan Q et al.

Protein Science : a Publication of the Protein Society, 2024

TREM2 risk variants are associated with atypical Alzheimer's disease.

Kim B et al.

Acta Neuropathologica, 2022

TREM2 coding variants in Slovak Alzheimer's disease patients.

Durmanova V et al.

Journal of Integrative Neuroscience, 2022

Soluble TREM2: Innocent bystander or active player in neurological diseases?

Filipello F et al.

Neurobiology of Disease, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging 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

African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants.

Schindler SE et al.

Neurology. Genetics, 2021

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

Margeta MA et al.

Investigative Ophthalmology & Visual Science, 2020

TREM2 regulates innate immunity in Alzheimer's disease.

Li JT et al.

Journal of Neuroinflammation, 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

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

Dardiotis E et al.

Neurobiology of Aging, 2017

TREMs in Alzheimer's disease: Genetic and clinical investigations.

Cheng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

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

Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population.

Miyashita A et al.

Journal of Alzheimer's Disease : Jad, 2014

TREM2 variants in Alzheimer's disease.

Guerreiro R et al.

The New England Journal of Medicine, 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."