Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.S3294P
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APOB

NM_000384.3:p.S3294P

Associated Papers

Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.

Dagli-Hernandez C et al.

Pharmacogenetics and Genomics, 2024

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
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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."