Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R248H
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PCSK9

NM_174936.4:p.R248H

Associated Papers

Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.

Takeuchi F et al.

Journal of Atherosclerosis and Thrombosis, 2026

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer.

Xue Y et al.

Nature Communications, 2019

30718506 (PubMed )
Supplement: 41467_2019_8380_MOESM3_ESM.xlsx › Supplemental_Table_1

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

Chorba JS et al.

The Journal of Biological Chemistry, 2018

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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."