Basic Information

PCSK9

Full name: proprotein convertase subtilisin/kexin type 9

Gene type: protein coding

HGNC ID: HGNC:20001

Gene location: 1p32.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/255738

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:20001

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_174936.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q8NBP7

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q8NBP7

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/607786

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=255738

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04979+255738

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
PCSK9	AMD	Intron Variant	rs12067569	G>A	chr1:55062956 (GRCh38.p13)