Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.S116C
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TREM2

NM_018965.4:p.S116C

Associated Papers

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

Glial cells and adaptive immunity in frontotemporal dementia with tau pathology.

Hartnell IJ et al.

Brain : a Journal of Neurology, 2021

Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.

Ng ASL et al.

Neurobiology of Aging, 2018

A split-luciferase complementation, real-time reporting assay enables monitoring of the disease-associated transmembrane protein TREM2 in live cells.

Varnum MM et al.

The Journal of Biological Chemistry, 2017

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

Dardiotis E et al.

Neurobiology of Aging, 2017

TREM2 in CNS homeostasis and neurodegenerative disease.

Painter MM et al.

Molecular Neurodegeneration, 2015

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.

Thelen M et al.

Neurobiology of Aging, 2014

Heterozygous TREM2 mutations in frontotemporal dementia.

Borroni B et al.

Neurobiology of Aging, 2014

Primary Microgliopathy Presenting as Degenerative Dementias: A Case Series of Novel Gene Mutations from India.

Ramakrishnan S et al.

Dementia and Geriatric Cognitive Disorders Extra, 0

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