Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.L211P
Back to variants list

TREM2

NM_018965.4:p.L211P

Associated Papers

The gain-of-function TREM2-T96K mutation increases risk for Alzheimer's disease by impairing microglial function.

Pilat DJ et al.

Neuron, 2026

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

Neuroimaging-derived biological brain age and its associations with glial reactivity and synaptic dysfunction cerebrospinal fluid biomarkers.

Cumplido-Mayoral I et al.

Molecular Psychiatry, 2025

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

Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.

Villegas-Llerena C et al.

Frontiers in Neuroscience, 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

A Risk Variant rs6922617 in TREM Is Discrepantly Associated With Defining Neuropathological Hallmarks in the Alzheimer's Continuum.

Qian S et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2024

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

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_2

Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.

Cárdenas WA et al.

Plos One, 2024

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

TREM2 has a significant, gender-specific, effect on human obesity.

Reich T et al.

Scientific Reports, 2023

Untangling the Role of TREM2 in Conjugation with Microglia in Neuronal Dysfunction: A Hypothesis on a Novel Pathway in the Pathophysiology of Alzheimer's Disease.

Basha SC et al.

Journal of Alzheimer's Disease : Jad, 2023

Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.

Alvarez KLF et al.

Frontiers in Molecular Neuroscience, 2023

TREM2 coding variants in Slovak Alzheimer's disease patients.

Durmanova V et al.

Journal of Integrative Neuroscience, 2022

Genomics and Functional Genomics of Alzheimer's Disease.

Kamboh MI

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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

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

Kulkarni B et al.

Molecular Neurobiology, 2021

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

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

Schindler SE et al.

Neurology. Genetics, 2021

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Hoogmartens J et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2021

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Vieira SRL et al.

Frontiers in Neurology, 2021

Analysis of Cerebrospinal Fluid Soluble TREM2 and Polymorphisms in Sporadic Parkinson's Disease in a Chinese Population.

Peng G et al.

Journal of Molecular Neuroscience : Mn, 2020

Differential role of triggering receptors expressed on myeloid cells 2 R47H in 3 neurodegenerative diseases based on a systematic review and meta-analysis.

Zhang B et al.

Medicine, 2020

Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers.

Ashton NJ et al.

Alzheimer's Research & Therapy, 2019

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Deming Y et al.

Science Translational Medicine, 2019

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

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology.

Suárez-Calvet M et al.

Molecular Neurodegeneration, 2019

TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.

Zhou SL et al.

Journal of Alzheimer's Disease : Jad, 2019

Genome-Wide Association Studies for Cerebrospinal Fluid Soluble TREM2 in Alzheimer's Disease.

Liu C et al.

Frontiers in Aging Neuroscience, 2019

Neurodegenerative Disease-Associated Variants in TREM2 Destabilize the Apical Ligand-Binding Region of the Immunoglobulin Domain.

Dean HB et al.

Frontiers in Neurology, 2019

The Role of APOE and TREM2 in Alzheimer's Disease-Current Understanding and Perspectives.

Wolfe CM et al.

International Journal of Molecular Sciences, 2018

TREM2 - a key player in microglial biology and Alzheimer disease.

Ulland TK et al.

Nature Reviews. Neurology, 2018

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

TREM2-Dependent Effects on Microglia in Alzheimer's Disease.

Zhou Y et al.

Frontiers in Aging Neuroscience, 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

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

Cheng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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

1–50 of 68 papers
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."