CTNNB1 gene homepage

General information
Gene symbol CTNNB1
Gene name catenin (cadherin-associated protein), beta 1, 88kDa
Chromosome 3
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_013302.1
Transcript reference NM_001904.3
Exon/intron information NM_001904.3 exon/intron table
Associated with diseases APA, cancer, liver, cancer, ovarian, CRC, EVR-7, EVR, ID, MDB, MRD-19, pilomatrixoma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Carmel Toomes
Total number of public variants reported 83
Unique public DNA variants reported 66
Individuals with public variants 47
Hidden variants 11
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated October 23, 2019
Version CTNNB1:191023

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_001904.3.
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 https://www.LOVD.nl/CTNNB1
HGNC 2514
Entrez Gene 1499
PubMed articles CTNNB1
OMIM - Gene 116806
OMIM - Diseases cancer, liver (cancer, hepatocellular)
cancer, ovarian
CRC (cancer, colorectal (CRC))
EVR-7 (vitreoretinopathy exudative, type 7 (EVR-7))
MDB (medulloblastoma (MDB))
MRD-19 (mental retardation, autosomal dominant, type 19 (MRD-19))
GeneCards CTNNB1
GeneTests CTNNB1

Active transcripts




NCBI ID     

NCBI Protein ID     

00024208 3 transcript variant 1 NM_001904.3 NP_001895.1 83

Copyright & disclaimer
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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.