The 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, EVR7, EVR, ID, MDB, NEDSDV, PILOMATRICOMA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Carmel Toomes
Total number of public variants reported 157
Unique public DNA variants reported 119
Individuals with public variants 100
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 April 19, 2024
Version CTNNB1:240419

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 (HCC))
cancer, ovarian
CRC (cancer, colorectal, susceptibility to (CRC))
EVR7 (vitreoretinopathy exudative, type 7 (EVR-7))
MDB (medulloblastoma (MDB))
NEDSDV (MRD19)
PILOMATRICOMA (pilomatrixoma)
HGMD CTNNB1
GeneCards CTNNB1
GeneTests CTNNB1
Orphanet CTNNB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024208 3 transcript variant 1 NM_001904.3 NP_001895.1 157


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