Varaico: Literature-Extracted Genetic Variants

Gene:SCARB1
Variant:p.S129L
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SCARB1

NM_005505.5:p.S129L

Associated Papers

Sequencing and functional characterization of SCARB1 variants in subjects with extreme HDL cholesterol levels.

Gracia-Rubio I et al.

Journal of Clinical Lipidology, 2025

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Gracia-Rubio I et al.

Biomedicines, 2021

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

SR-B1 and PDZK1: partners in HDL regulation.

Trigatti BL

Current Opinion in Lipidology, 2017

SCARB1 Gene Variants Are Associated With the Phenotype of Combined High High-Density Lipoprotein Cholesterol and High Lipoprotein (a).

Yang X et al.

Circulation. Cardiovascular Genetics, 2016

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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."