Varaico: Literature-Extracted Genetic Variants

Gene:C5AR2
Variant:p.S323I
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C5AR2

NM_001271749.2:p.S323I

Associated Papers

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Familial combined hyperlipidemia: An overview of the underlying molecular mechanisms and therapeutic strategies.

Taghizadeh E et al.

Iubmb Life, 2019

Association of C5L2 genetic polymorphisms with coronary artery disease in a Han population in Xinjiang, China.

Zheng YY et al.

Oncotarget, 2017

Association of acylation-stimulating protein and receptor gene polymorphisms with coronary heart disease in Han and Hui populations.

Jiang H et al.

International Journal of Clinical and Experimental Medicine, 2015

Relationship between type 2 diabetes mellitus and a novel polymorphism C698T in C5L2 in the Chinese Han population.

Zheng YY et al.

Endocrine, 2012

S323I polymorphism of the C5L2 gene was not identified in a Chinese population with familial combined hyperlipidemia or with type 2 diabetes.

Zheng YY et al.

Genetics and Molecular Research : Gmr, 2011

[Association between apolipoprotein A5 gene polymorphism and coronary heart disease in the Han population from Xinjiang].

Yuan S et al.

Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi, 2011

Relationship between a novel polymorphism of the C5L2 gene and coronary artery disease.

Zheng YY et al.

Plos One, 2011

C5a- and ASP-mediated C5L2 activation, endocytosis and recycling are lost in S323I-C5L2 mutation.

Cui W et al.

Molecular Immunology, 2009

New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia.

Horswell SD et al.

Journal of Lipid Research, 2009

Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia.

Marcil M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2006

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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."