The APOB gene homepage

General information
Gene symbol APOB
Gene name apolipoprotein B (including Ag(x) antigen)
Chromosome 2
Chromosomal band p24-p23
Imprinted Unknown
Genomic reference NG_011793.2
Transcript reference NM_000384.2
Exon/intron information NM_000384.2 exon/intron table
Associated with diseases FHBL1, FHCL2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1540
Unique public DNA variants reported 1292
Individuals with public variants 1142
Hidden variants 11
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated February 26, 2024
Version APOB:240226

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_000384.2.
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 https://www.LOVD.nl/APOB
HGNC 603
Entrez Gene 338
PubMed articles APOB
OMIM - Gene 107730
OMIM - Diseases FHBL1 (hypobetalipoproteinemia, familial, type 1 (FHBL1))
FHCL2 (hypercholesterolemia, familial, type 2 (FHCL2))
HGMD APOB
GeneCards APOB
GeneTests APOB
Orphanet APOB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002685 2 apolipoprotein B (including Ag(x) antigen) NM_000384.2 NP_000375.2 1540


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