Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L209P
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LCAT

NM_000229.2:p.L209P

Associated Papers

The high-resolution crystal structure of human LCAT.

Piper DE et al.

Journal of Lipid Research, 2015

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

Glukhova A et al.

Nature Communications, 2015

Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity.

Peelman F et al.

Journal of Lipid Research, 1999

A proposed architecture for lecithin cholesterol acyl transferase (LCAT): identification of the catalytic triad and molecular modeling.

Peelman F et al.

Protein Science : a Publication of the Protein Society, 1998

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

Kuivenhoven JA et al.

Journal of Lipid Research, 1997

Identification of the homozygous missense mutation in the lecithin:cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.

Dorval I et al.

Atherosclerosis, 1994

The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

Skretting G et al.

Febs Letters, 1992

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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."