Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.T223I
Back to variants list

TREM2

NM_018965.4:p.T223I

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

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-15.xlsx › Supplementary_Table_2

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

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

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_1

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

Dardiotis E et al.

Neurobiology of Aging, 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

Lack of genetic association between TREM2 and Alzheimer's disease in East Asian population: a systematic review and meta-analysis.

Huang M et al.

American Journal of Alzheimer's Disease and Other Dementias, 2015

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

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

Cuyvers E et al.

Neurobiology of Aging, 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."