Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.S520F
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PLCG1

NM_002660.3:p.S520F

Associated Papers

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 › S2_Recurrent_Variants

TCR Pathway Mutations in Mature T Cell Lymphomas.

Zhang Y et al.

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

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

Liu X et al.

Cancers, 2022

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

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

García-Díaz N et al.

Cancers, 2021

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

Genomic analysis reveals recurrent deletion of JAK-STAT signaling inhibitors HNRNPK and SOCS1 in mycosis fungoides.

Bastidas Torres AN et al.

Genes, Chromosomes & Cancer, 2018

Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Mondejar R et al.

Plos One, 2017

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

Integrated molecular analysis of adult T cell leukemia/lymphoma.

Kataoka K et al.

Nature Genetics, 2015

Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.

Kiel MJ et al.

Nature Communications, 2015

Adiponectin Deficiency Contributes to Sensitivity in Human Skin.

Kim EJ et al.

The Journal of Investigative Dermatology, 2015

PLCG1 Gene Mutations Are Uncommon in Cutaneous T-Cell Lymphomas.

Caumont C et al.

The Journal of Investigative Dermatology, 2015

Genomic landscape of cutaneous T cell lymphoma.

Choi J et al.

Nature Genetics, 2015

Dysfunction of phospholipase Cγ in immune disorders and cancer.

Koss H et al.

Trends in Biochemical Sciences, 2014

PLCG1 mutations in cutaneous T-cell lymphomas.

Vaqué JP et al.

Blood, 2014

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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."