Varaico: Literature-Extracted Genetic Variants

Gene:PLIN2
Variant:p.S251P
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PLIN2

NM_001122.4:p.S251P

Associated Papers

A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in mice.

Scorletti E et al.

Jhep Reports : Innovation in Hepatology, 2024

Parallel CRISPR-Cas9 screens identify mechanisms of PLIN2 and lipid droplet regulation.

Roberts MA et al.

Developmental Cell, 2023

Sex-Dependent Mediation of Leptin in the Association of Perilipin Polymorphisms with BMI and Plasma Lipid Levels in Children.

Vales-Villamarín C et al.

Nutrients, 2022

Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk.

Dabravolski SA et al.

International Journal of Molecular Sciences, 2021

Potentially functional genetic variants in PLIN2, SULT2A1 and UGT1A9 genes of the ketone pathway and survival of nonsmall cell lung cancer.

Tang D et al.

International Journal of Cancer, 2020

A single nucleotide polymorphism of PLIN2 is associated with nonalcoholic steatohepatitis and causes phenotypic changes in hepatocyte lipid droplets: A pilot study.

Faulkner CS et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2020

Polymorphism in PLIN2 gene and its association with growth traits in Chinese native cattle.

Yue B et al.

Animal Biotechnology, 2020

Subclinical atherosclerosis and its progression are modulated by PLIN2 through a feed-forward loop between LXR and autophagy.

Saliba-Gustafsson P et al.

Journal of Internal Medicine, 2019

Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study.

Simino J et al.

Plos One, 2017

The perilipin 2 (PLIN2) gene Ser251Pro missense mutation is associated with reduced insulin secretion and increased insulin sensitivity in Italian obese subjects.

Sentinelli F et al.

Diabetes/metabolism Research and Reviews, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A6-01A.domain

Structural and functional assessment of perilipin 2 lipid binding domain(s).

Najt CP et al.

Biochemistry, 2014

The minor allele of the missense polymorphism Ser251Pro in perilipin 2 (PLIN2) disrupts an α-helix, affects lipolysis, and is associated with reduced plasma triglyceride concentration in humans.

Magné J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

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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."