Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.D1165H
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PLCG1

NM_002660.3:p.D1165H

Associated Papers

Hyperactive PLCG1 induces cell-autonomous and bystander T cell activation and drug resistance.

Zeng L et al.

Embo Reports, 2025

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Ma M et al.

Elife, 2025

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Ma M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Distinctive genomic features of human T-lymphotropic virus type 1-related adult T-cell leukemia-lymphoma in Western populations.

Myers CS et al.

Haematologica, 2024

39113648 (PubMed )
Supplement: 2024_285233_MYERS_TABLES_SUPPL.xlsx › S1_COSMIC_Variants

Mechanisms of action and resistance in histone methylation-targeted therapy.

Yamagishi M et al.

Nature, 2024

38383791 (PubMed )
Supplement: 41586_2024_7103_MOESM3_ESM.xlsx › Sup_Table_4

TCR Pathway Mutations in Mature T Cell Lymphomas.

Zhang Y et al.

Journal of Immunology (baltimore, Md. : 1950), 2023

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

Mutations Affecting Genes in the Proximal T-Cell Receptor Signaling Pathway in Peripheral T-Cell Lymphoma.

Liu X et al.

Cancers, 2022

Targeted Deep Sequencing of Mycosis Fungoides Reveals Intracellular Signaling Pathways Associated with Aggressiveness and Large Cell Transformation.

Wobser M et al.

Cancers, 2021

34771672 (PubMed )
Supplement: cancers-13-05512-s001.zip › cancers-1392442-supplementary.xlsx › Supplementary_Table_S3

Targeted deep sequencing reveals clonal and subclonal mutational signatures in Adult T-cell leukemia/lymphoma and defines an unfavorable indolent subtype.

Marçais A et al.

Leukemia, 2021

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Sakihama S et al.

Cancer Science, 2021

33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4

Application of Cluster Analysis of Time Evolution for Magnetic Resonance Imaging -Derived Oxygen Extraction Fraction Mapping: A Promising Strategy for the Genetic Profile Prediction and Grading of Glioma.

Shen N et al.

Frontiers in Neuroscience, 2021

34671241 (PubMed )
Supplement: Data_Sheet_1.ZIP › 736891_SupMaterial › Source_data › genomic_data › ____________.xlsx › snv

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

Katan M et al.

Progress in Lipid Research, 2020

Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell.

Yao WQ et al.

The Journal of Pathology, 2020

Frequent and Persistent PLCG1 Mutations in Sézary Cells Directly Enhance PLCγ1 Activity and Stimulate NFκB, AP-1, and NFAT Signaling.

Patel VM et al.

The Journal of Investigative Dermatology, 2020

Activating mutations in genes related to TCR signaling in angioimmunoblastic and other follicular helper T-cell-derived lymphomas.

Vallois D et al.

Blood, 2016

Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.

Woollard WJ et al.

Blood, 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."