Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.D993G
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PLCG2

NM_002661.5:p.D993G

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept.

Kang Z et al.

Molecular and Cellular Pediatrics, 2025

Pharmacological profiling in CLL patients during pirtobrutinib therapy and disease progression.

Tantawy SI et al.

Blood Cancer Journal, 2025

41145426 (PubMed )
Supplement: 41408_2025_1382_MOESM4_ESM.xlsx › Sheet1

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

Shin YC et al.

Science Advances, 2024

Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.

Yang Z et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

Transcriptomic and proteomic differences in BTK-WT and BTK-mutated CLL and their changes during therapy with pirtobrutinib.

Aslan B et al.

Blood Advances, 2024

38968154 (PubMed )
Supplement: BLOODA_ADV-2023-012360-mmc1.pdf

BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.

Bonfiglio S et al.

Blood Advances, 2023

G-CSF drives autoinflammation in APLAID.

Mulazzani E et al.

Nature Immunology, 2023

IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Li Q et al.

Frontiers in Oncology, 2022

35720006 (PubMed )
Supplement: Table_2.xlsx › Sheet1

The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration.

Jackson JT et al.

The Journal of Biological Chemistry, 2021

Resistance Mutations to BTK Inhibitors Originate From the NF-κB but Not From the PI3K-RAS-MAPK Arm of the B Cell Receptor Signaling Pathway.

Smith CIE et al.

Frontiers in Immunology, 2021

Phospholipase C families: Common themes and versatility in physiology and pathology.

Katan M et al.

Progress in Lipid Research, 2020

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Martín-Nalda A et al.

Journal of Clinical Immunology, 2020

Structural insights and activating mutations in diverse pathologies define mechanisms of deregulation for phospholipase C gamma enzymes.

Liu Y et al.

Ebiomedicine, 2020

Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph.

Magno L et al.

Alzheimer's Research & Therapy, 2019

Cool-temperature-mediated activation of phospholipase C-γ2 in the human hereditary disease PLAID.

Schade A et al.

Cellular Signalling, 2016

Dysfunction of phospholipase Cγ in immune disorders and cancer.

Koss H et al.

Trends in Biochemical Sciences, 2014

BANK1 and BLK act through phospholipase C gamma 2 in B-cell signaling.

Bernal-Quirós M et al.

Plos One, 2013

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Zhou Q et al.

American Journal of Human Genetics, 2012

Platelet hyperreactivity and a prothrombotic phenotype in mice with a gain-of-function mutation in phospholipase Cgamma2.

Elvers M et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry.

Yu P et al.

Immunity, 2005

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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."