Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.M1141K
Back to variants list

PLCG2

NM_002661.5:p.M1141K

Associated Papers

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

Jiang P et al.

Journal of Translational Medicine, 2026

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

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.

Akoglu G et al.

Clinical Rheumatology, 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

Resistance to targeted therapies in chronic lymphocytic leukemia: Current status and perspectives for clinical and diagnostic practice.

Blombery P et al.

Leukemia, 2025

Phosphoinositide-specific phospholipase C enzymes: Recent advances in a long journey.

Macrae C et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025

Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study.

Brown JR et al.

Blood Advances, 2025

Case Report: de novo in-frame deletion in PLCG2 gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa.

Wu X et al.

Frontiers in Immunology, 2025

Early-onset bibasilar emphysema in a patient with PLCG2-related immune dysregulation.

Sundlof A et al.

Respiratory Medicine Case Reports, 2025

Characterisation of molecular mechanisms for PLCγ2 disease-linked variants.

Bunney TD et al.

Advances in Biological Regulation, 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

Mutational profile in previously treated patients with chronic lymphocytic leukemia progression on acalabrutinib or ibrutinib.

Woyach JA et al.

Blood, 2024

APLAID complicated with arrhythmogenic dilated cardiomyopathy caused by a novel PLCG2 variant.

Wang T et al.

Immunologic Research, 2024

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.

Jain N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

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

Bonfiglio S et al.

Blood Advances, 2023

Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review.

Wu N 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

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T 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

Resistance-Associated Mutations in Chronic Lymphocytic Leukemia Patients Treated With Novel Agents.

Sedlarikova L et al.

Frontiers in Oncology, 2020

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2018

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

PLCG2 C2 domain mutations co-occur with BTK and PLCG2 resistance mutations in chronic lymphocytic leukemia undergoing ibrutinib treatment.

Jones D et al.

Leukemia, 2017

Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.

Burger JA et al.

Nature Communications, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."