Gene Information
proprotein convertase subtilisin/kexin type 9 [Source:HGNC Symbol;Acc:HGNC:20001]
PCSK9 variants are associated with 1 disease including homozygous familial hypercholesterolemia, with 6 documented clinical phenotypes.
The PCSK9 gene is associated with 1 medical condition, including:
Research has identified 6 phenotypic features associated with PCSK9 variants:
ClinVar contains 10 variants associated with PCSK9. Below are some notable variants:
NM_174936.4(PCSK9):c.399+1G>A
Likely pathogenicVCV004277664
Review: criteria provided, single submitter
NM_174936.4(PCSK9):c.1864-651G>T
Uncertain significanceVCV004079509
Review: criteria provided, single submitter
NM_174936.4(PCSK9):c.1193T>C (p.Met398Thr)
Uncertain significanceVCV004077296
Review: criteria provided, single submitter
NM_174936.4(PCSK9):c.749T>G (p.Leu250Arg)
Uncertain significanceVCV004057032
Review: criteria provided, single submitter
NM_174936.4(PCSK9):c.874G>A (p.Gly292Arg)
Uncertain significanceVCV004055944
Review: criteria provided, single submitter
There are 4,081 publications about PCSK9 indexed in PubMed. Below are some recent papers:
Impact of PCSK9 Inhibitors on Lipoprotein(a) Levels: A Multi-Center Study.
Bhatia HS, Cuomo R, Ramsis M
PMID: 41253688
•
2025 Nov 18
•
Eur J Prev Cardiol
Cell-dependent contributions of thrombospondin-1 to the rupture of abdominal aortic aneurysm in mice.
Zhou T, Yang H, Kim J
PMID: 41252281
•
2025 Nov 18
•
Cardiovasc Res
Lipid-lowering therapy in Switzerland: time trends in utilization and cost, 2015-2023.
Wolf S, Zufferey J, Kucher N
PMID: 41250151
•
2025 Nov 17
•
Lipids Health Dis
Dramatic coronary artery aneurysm regression after coronary artery bypass grafting and proprotein convertase subtilisin/kexin type 9 inhibitor therapy.
Yokoyama Y, Higashino H, Fujieda H
PMID: 41247317
•
2025 Nov 17
•
Interdiscip Cardiovasc Thorac Surg
Advances in molecular regulation and function of LDLR family in viral infection.
Yao Q, Gong J, Lu H
PMID: 41244697
•
2025
•
Front Microbiol
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Trusted Data Sources
Last updated: 11/20/2025