Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.N68K
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TREM2

NM_018965.4:p.N68K

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

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

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

Filipello F et al.

Neurobiology of Disease, 2022

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

Kulkarni B et al.

Molecular Neurobiology, 2021

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

Del-Aguila JL et al.

Molecular Neurodegeneration, 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

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.

Kober DL et al.

Elife, 2016

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

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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."