Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.R48W
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PLCG1

NM_002660.3:p.R48W

Associated Papers

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

Zeng L et al.

Embo Reports, 2025

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

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

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

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_3

Two cases of mycosis fungoides with large cell transformation with KMT2A rearrangements.

Wadsworth PA et al.

Journal of Hematopathology, 2023

TCR Pathway Mutations in Mature T Cell Lymphomas.

Zhang Y et al.

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

Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers.

Böck J et al.

Frontiers in Oncology, 2023

37664054 (PubMed )
Supplement: Table_1.xlsx › Table_S2

Nodal cytotoxic peripheral T-cell lymphoma occurs frequently in the clinical setting of immunodysregulation and is associated with recurrent epigenetic alterations.

Nicolae A et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

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

Liu X et al.

Cancers, 2022

Advances in the understanding and treatment of Cutaneous T-cell Lymphoma.

Bakr FS et al.

Frontiers in Oncology, 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

Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Yamagishi M et al.

Nature Communications, 2021

34376672 (PubMed )
Supplement: 41467_2021_25101_MOESM6_ESM.xlsx › Sup_Data_4

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

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

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

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

Woollard WJ et al.

Blood, 2016

Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes.

Wang L et al.

Nature Genetics, 2015

Genomic landscape of cutaneous T cell lymphoma.

Choi J et al.

Nature Genetics, 2015

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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."