Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.A105V
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TREM2

NM_018965.4:p.A105V

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

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Holstege H et al.

Nature Genetics, 2022

36411364 (PubMed )
Supplement: 41588_2022_1208_MOESM1_ESM.pdf

Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study.

Xie XY et al.

Genes & Diseases, 2022

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

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

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

APOE ε4 is also required in TREM2 R47H variant carriers for Alzheimer's disease to develop.

Murray CE et al.

Neuropathology and Applied Neurobiology, 2019

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

Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Ghani M et al.

Neurobiology of Aging, 2015

Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.

Jiao B et al.

Neurobiology of Aging, 2014

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8

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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