Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.R1158H
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PLCG1

NM_002660.3:p.R1158H

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Abdul Murad NA et al.

Genes, 2023

36980993 (PubMed )
Supplement: genes-14-00721-s001.zip › genes-2217247-supplementary.pdf

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

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

Kiel MJ et al.

Nature Communications, 2015

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