The TBCE gene homepage

General information
Gene symbol TBCE
Gene name tubulin folding cofactor E
Chromosome 1
Chromosomal band q42.3
Imprinted Unknown
Genomic reference NG_009230.1
Transcript reference NM_003193.3
Associated with diseases HRDS, ID, KCS1, PEAMO
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 140
Unique public DNA variants reported 105
Individuals with public variants 19
Hidden variants 14
Date created May 03, 2013
Date last updated February 26, 2024
Version TBCE:240226

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
HGNC 11582
Entrez Gene 6905
PubMed articles TBCE
OMIM - Gene 604934
OMIM - Diseases HRDS (Hypoparathyroidism-retardation-dysmorphism syndrome)
KCS1 (Kenny-Caffey syndrome, type 1 (KCS-1))
PEAMO (encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO))
Orphanet TBCE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020836 1 transcript variant 2 NM_003193.3 NP_003184.1 140


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