Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W214S
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LDLR

NM_000527.5:p.W214S

Associated Papers

Molecular chaperone RAP interacts with LRP1 in a dynamic bivalent mode and enhances folding of ligand-binding regions of other LDLR family receptors.

Marakasova E et al.

The Journal of Biological Chemistry, 2021

Functional analysis of six uncharacterised mutations in LDLR gene.

Gomez A et al.

Atherosclerosis, 2019

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

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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."