Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L168R
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APOA1

NM_000039.3:p.L168R

Associated Papers

Structure-function analysis of naturally occurring apolipoprotein A-I L144R, A164S and L178P mutants provides insight on their role on HDL levels and cardiovascular risk.

Gkolfinopoulou C et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Mutation mapping of apolipoprotein A-I structure assisted with the putative cholesterol recognition regions.

Dergunov AD

Biochimica Et Biophysica Acta, 2013

Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.

Haase CL et al.

Plos Genetics, 2012

23209431 (PubMed )
Supplement: pgen.1003063.s004.pdf

Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism.

Karuna R et al.

Atherosclerosis, 2011

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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."