The TUBB3 gene homepage

General information
Gene symbol TUBB3
Gene name tubulin, beta 3 class III
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_027810.1
Transcript reference NM_001197181.1, NM_006086.3
Associated with diseases CDCBM-1, CFEOM-3A
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 83
Unique public DNA variants reported 13
Individuals with public variants 34
Hidden variants 10
Date created November 30, -0001
Date last updated September 28, 2016
Version TUBB3:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:20772
Entrez Gene 10381
PubMed articles TUBB3
OMIM - Gene 602661
OMIM - Diseases CDCBM-1 (dysplasia ,cortical, complex, with other brain malformations (CDCBM-1))
CFEOM-3A (fibrosis of extraocular muscles, congenital, type 3A (CFEOM-3A))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023162 16 transcript variant 2 NM_001197181.1 NP_001184110.1 83
00023163 16 transcript variant 1 NM_006086.3 NP_006077.2 78