The ARID1B gene homepage

General information
Gene symbol ARID1B
Gene name AT rich interactive domain 1B (SWI1-like)
Chromosome 6
Chromosomal band q25.3
Imprinted Unknown
Genomic reference NG_032093.1
Transcript reference NM_001374828.1, NM_020732.3
Exon/intron information NM_020732.3 exon/intron table
Associated with diseases CSS, CSS1, ID, MRD12
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gijs Santen
Total number of public variants reported 541
Unique public DNA variants reported 352
Individuals with public variants 252
Hidden variants 73
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 03, 2012
Date last updated January 11, 2023
Version ARID1B:230111

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_020732.3.
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
HGNC 18040
Entrez Gene 57492
PubMed articles ARID1B
OMIM - Gene 614556
OMIM - Diseases CSS1 (MRD12)
MRD12 (mental retardation, autosomal dominant, type 12 (MRD-12))
GeneCards ARID1B
GeneTests ARID1B
Orphanet ARID1B

Active transcripts




NCBI ID     

NCBI Protein ID     

00002835 6 transcript variant 2 NM_020732.3 NP_065783.3 541
00025768 6 transcript variant 3 NM_001374828.1 NP_001361757.1 20

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.