Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.G595A
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SREBF2

NM_004599.4:p.G595A

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

A high cholesterol diet aggravates experimental colitis through SREBP2-modulated endocytosis and degradation of occludin and Zo-1 proteins.

Yang Q et al.

The Febs Journal, 2025

A Genome-Wide Analysis of a Sudden Cardiac Death Cohort: Identifying Novel Target Variants in the Era of Molecular Autopsy.

Beccacece L et al.

Genes, 2023

Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.

Dagli-Hernandez C et al.

Pharmacological Reports : Pr, 2022

Genetics of nonalcoholic fatty liver disease in Asian populations.

Kumar A et al.

Journal of Genetics, 2019

SREBF1c and SREBF2 gene polymorphisms are associated with acute coronary syndrome and blood lipid levels in Mexican population.

Vargas-Alarcon G et al.

Plos One, 2019

Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease.

Brady GF et al.

Hepatology (baltimore, Md.), 2018

Association of SREBP2 gene polymorphisms with the risk of osteonecrosis of the femoral head relates to gene expression and lipid metabolism disorders.

Song Y et al.

Molecular Medicine Reports, 2017

Association of lipid metabolism relevant gene FBXW7 polymorphism with coronary artery disease in Uygur Chinese population in Xinjiang, China: a case-control.

Abudesimu A et al.

International Journal of Clinical and Experimental Pathology, 2017

USF-1 genetic polymorphisms confer a high risk of nonalcoholic fatty liver disease in Chinese population.

Wang Y et al.

International Journal of Clinical and Experimental Medicine, 2015

Association between single nucleotide polymorphisms of sterol regulatory element binding protein-2 and liver X receptor α gene and risk of polycystic ovary syndrome in a Chinese Han population.

Zhao J et al.

Cell Biochemistry and Biophysics, 2014

Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty liver disease in a Han Chinese population.

Wang Y et al.

Genetic Testing and Molecular Biomarkers, 2014

Influence of SREBP-2 and SCAP gene polymorphisms on lipid-lowering response to atorvastatin in a cohort of Chilean subjects with Amerindian background.

Lagos J et al.

Molecular Diagnosis & Therapy, 2014

Association between single nucleotide polymorphisms of sterol regulatory element binding protein-2 gene and risk of knee osteoarthritis in a Chinese Han population.

Qiu XM et al.

The Journal of International Medical Research, 2014

Genetic variation in the patatin-like phospholipase domain-containing protein-3 (PNPLA-3) gene in Asian Indians with nonalcoholic fatty liver disease.

Bhatt SP et al.

Metabolic Syndrome and Related Disorders, 2013

Multi-analytic approach elucidates significant role of hormonal and hepatocanalicular transporter genetic variants in gallstone disease in North Indian population.

Srivastava A et al.

Plos One, 2013

Are centenarians genetically predisposed to lower disease risk?

Ruiz JR et al.

Age (dordrecht, Netherlands), 2012

Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm.

Kato K et al.

International Journal of Molecular Medicine, 2012

Association of sterol regulatory element-binding transcription factor gene polymorphisms with ischaemic stroke.

Jin X et al.

The Journal of International Medical Research, 2012

Central role of SREBP-2 in the pathogenesis of osteoarthritis.

Kostopoulou F et al.

Plos One, 2012

Sterol regulatory element-binding transcription factor (SREBF)-2, SREBF cleavage-activating protein (SCAP), and premature coronary artery disease in a Chinese population.

Chen Z et al.

Molecular Biology Reports, 2011

SREBP-2 1784 G/C genotype is associated with non-alcoholic fatty liver disease in north Indians.

Bhatt SP et al.

Disease Markers, 2011

Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population.

Liu X et al.

Atherosclerosis, 2010

Molecular genetics of atherosclerosis.

Roy H et al.

Human Genetics, 2009

Polymorphism of the sterol regulatory element-binding protein-2 gene and its association with serum lipid levels in the Guangxi Hei Yi Zhuang and Han populations.

Yaju D et al.

The American Journal of the Medical Sciences, 2009

Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.

Fan YM et al.

Thrombosis Journal, 2008

SREBP-2 and SCAP isoforms and risk of early onset myocardial infarction.

Friedlander Y et al.

Atherosclerosis, 2008

Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man.

Laaksonen R et al.

Atherosclerosis, 2006

The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status.

Rozek LS et al.

Journal of Lipid Research, 2005

The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects.

Duan X et al.

Journal of Lipid Research, 2005

[Relations between polymorphism of sterol regulatory element binding protein-2 gene and hyperlipidemia in the Han ethics of China].

Duan X et al.

Wei Sheng Yan Jiu = Journal of Hygiene Research, 2004

Characterization of polymorphic structure of SREBP-2 gene: role in atherosclerosis.

Robinet P et al.

Atherosclerosis, 2003

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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."