Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.D993H
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PLCG2

NM_002661.5:p.D993H

Associated Papers

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

Jiang P et al.

Journal of Translational Medicine, 2026

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

Blombery P et al.

Leukemia, 2025

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

Ultra-deep mutational landscape in chronic lymphocytic leukemia uncovers dynamics of resistance to targeted therapies.

Woolston DW et al.

Haematologica, 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

Mutations Detected in Real World Clinical Sequencing during BTK Inhibitor Treatment in CLL.

Brown J et al.

Research Square, 2024

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

Bonfiglio S et al.

Blood Advances, 2023

Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.

Thompson ER et al.

Blood Advances, 2022

Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinib.

Gángó A et al.

International Journal of Cancer, 2020

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

Burger JA et al.

Nature Communications, 2016

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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."