Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.R1575P
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PLCE1

NM_016341.4:p.R1575P

Associated Papers

Dissecting the Genetic Architecture of Intracranial Aneurysms.

Adkar SS et al.

Circulation. Genomic and Precision Medicine, 2025

40255156 (PubMed )
Supplement: circcvg-2024-004626-t-s02.xlsx › Table_9

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.

Bjornsdottir G et al.

Nature Genetics, 2023

37884687 (PubMed )
Supplement: 41588_2023_1538_MOESM3_ESM.xlsx › 16-coding

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

van Duijvenboden S et al.

American Journal of Human Genetics, 2023

Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.

Winsvold BS et al.

Annals of Neurology, 2023

37486023 (PubMed )
Supplement: ANA-94-713-s001.xlsx › Table_S18

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes.

Alaamery M et al.

Frontiers in Genetics, 2022

Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.

Tang C et al.

Molecular Medicine Reports, 2020

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

31641117 (PubMed )
Supplement: 41467_2019_12682_MOESM5_ESM.xlsx › Sheet1

The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

Thi Kim Lien N et al.

Medicina (kaunas, Lithuania), 2019

Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Czyz M et al.

Journal of Oncology, 2019

31354817 (PubMed )
Supplement: 1697913.f1.pdf

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-12.pdf

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

Gbadegesin R et al.

Pediatric Nephrology (berlin, Germany), 2009

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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."