Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.E48K
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PCSK9

NM_174936.4:p.E48K

Associated Papers

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Sarkar SK et al.

Frontiers in Physiology, 2022

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.

Calandra S et al.

Current Opinion in Lipidology, 2017

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Seidah NG et al.

Pharmacological Reviews, 2017

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Hopkins PN et al.

Circulation. Cardiovascular Genetics, 2015

26374825 (PubMed )
Supplement: hcg-8-823-s003.pdf
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