Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.D993Y
Back to variants list

PLCG2

NM_002661.5:p.D993Y

Associated Papers

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

Akoglu G et al.

Clinical Rheumatology, 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

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

Are BTK and PLCG2 mutations necessary and sufficient for ibrutinib resistance in chronic lymphocytic leukemia?

Lampson BL et al.

Expert Review of Hematology, 2018

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

27199251 (PubMed )
Supplement: ncomms11589-s2.xlsx › MM_workingCopy-1.txt
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."