Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.Y144C
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LCAT

NM_000229.2:p.Y144C

Associated Papers

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.

Glukhova A et al.

Nature Communications, 2015

Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease.

Zhang K et al.

Biochemical and Biophysical Research Communications, 2004

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.

Kuivenhoven JA et al.

Journal of Lipid Research, 1997

A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.

Contacos C et al.

Journal of Lipid Research, 1996

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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."