Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.S345F
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PLCG1

NM_002660.3:p.S345F

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

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

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

Ma M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Single Cell Resolution Tracking of Cutaneous T-Cell Lymphoma Reveals Clonal Evolution in Disease Progression.

Dorando HK et al.

Biorxiv : the Preprint Server for Biology, 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

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

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_

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

New molecular targets in canine hemangiosarcoma-Comparative review and future of the precision medicine.

Kapturska KM et al.

Veterinary and Comparative Oncology, 2023

A frequent PLCγ1 mutation in adult T-cell leukemia/lymphoma determines functional properties of the malignant cells.

Prawiro C et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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

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

Mutation analysis links angioimmunoblastic T-cell lymphoma to clonal hematopoiesis and smoking.

Cheng S et al.

Elife, 2021

34581268 (PubMed )
Supplement: elife-66395-supp3.xlsx › variant_summary

Oncogenic Mutations and Gene Fusions in CD30-Positive Lymphoproliferations and Clonally Related Mycosis Fungoides Occurring in the Same Patients.

Wobser M et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2021

34909731 (PubMed )
Supplement: mmc2.xlsx › Table_4

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

Mycosis Fungoides and Sézary Syndrome: An Integrative Review of the Pathophysiology, Molecular Drivers, and Targeted Therapy.

García-Díaz N et al.

Cancers, 2021

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

A computational in silico approach to predict high-risk coding and non-coding SNPs of human PLCG1 gene.

Khan SM et al.

Plos One, 2021

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

Structural insights and activating mutations in diverse pathologies define mechanisms of deregulation for phospholipase C gamma enzymes.

Liu Y et al.

Ebiomedicine, 2020

31918402 (PubMed )
Supplement: mmc2.pdf
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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."