Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.M28L
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PLCG2

NM_002661.5:p.M28L

Associated Papers

PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications.

Jiang P et al.

Journal of Translational Medicine, 2026

Alzheimer's disease-associated PLCG2 variants alter microglial state and function in human induced pluripotent stem cell-derived microglia-like cells.

Bedford LM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

PLCG2 modulates TREM2 expression and signaling in response to Alzheimer's disease pathology.

Messenger EJ et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

The crystal and cryo-EM structures of PLCγ2 reveal dynamic interdomain recognitions in autoinhibition.

Shin YC et al.

Science Advances, 2024

In vivo validation of late-onset Alzheimer's disease genetic risk factors.

Sasner M et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function - Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation.

Bull D et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

In vivo validation of late-onset Alzheimer's disease genetic risk factors.

Sasner M et al.

Biorxiv : the Preprint Server for Biology, 2023

Multi-omics analyses reveal novel effects of PLCγ2 deficiency in the mouse brain.

Hopp SC et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic variants of phospholipase C-γ2 alter the phenotype and function of microglia and confer differential risk for Alzheimer's disease.

Tsai AP et al.

Immunity, 2023

Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system.

Diks AM et al.

Molecular Neurodegeneration, 2023

Immunogenetics associated with severe coccidioidomycosis.

Hsu AP et al.

Jci Insight, 2022

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Atschekzei F et al.

Rmd Open, 2022

Plcg2M28L Interacts With High Fat/High Sugar Diet to Accelerate Alzheimer's Disease-Relevant Phenotypes in Mice.

Oblak AL et al.

Frontiers in Aging Neuroscience, 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

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_028_N

PLCγ2 impacts microglia-related effectors revealing variants and pathways important in Alzheimer's disease.

Li K et al.

Frontiers in Cell and Developmental Biology, 2022

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Bisgin A et al.

Scientific Reports, 2021

33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM3_ESM.pdf

Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.

Umar M et al.

Journal of Cellular and Molecular Medicine, 2020

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

The Phospholipase Cγ2 Mutants R665W and L845F Identified in Ibrutinib-resistant Chronic Lymphocytic Leukemia Patients Are Hypersensitive to the Rho GTPase Rac2 Protein.

Walliser C et al.

The Journal of Biological Chemistry, 2016

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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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."