The PCSK9 gene homepage

General information
Gene symbol PCSK9
Gene name proprotein convertase subtilisin/kexin type 9
Chromosome 1
Chromosomal band p34.1-p32
Imprinted Unknown
Genomic reference LRG_275
Transcript reference NM_174936.3
Exon/intron information NM_174936.3 exon/intron table
Associated with diseases HCHOLA-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Sarah Leigh
Total number of public variants reported 293
Unique public DNA variants reported 265
Individuals with public variants 15
Hidden variants 6
Download all this gene's data Download all data
Notes Aliases gene: NARC-1, FH3
When citing this database please quote Leigh et al 2009, Atherosclerosis 203, 32-33.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 04, 2008
Date last updated February 08, 2021
Version PCSK9:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_174936.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL British Heart Foundation
HGNC 20001
Entrez Gene 255738
PubMed articles PCSK9
OMIM - Gene 607786
OMIM - Diseases HCHOLA-3 (LDLCQ-1)
GeneCards PCSK9
GeneTests PCSK9
Orphanet PCSK9

Active transcripts




NCBI ID     

NCBI Protein ID     

00015847 1 proprotein convertase subtilisin/kexin type 9 NM_174936.3 NP_777596.2 293

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.