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_011793.1
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 1192
Unique public DNA variants reported 993
Individuals with public variants 1138
Hidden variants 11
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 April 13, 2021
Version APOB:210413

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
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))
GeneCards APOB
GeneTests APOB
Orphanet APOB

Active transcripts




NCBI ID     

NCBI Protein ID     

00002685 2 apolipoprotein B (including Ag(x) antigen) NM_000384.2 NP_000375.2 1192

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 © 2010-2021. 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.