The BUB1 gene homepage

General information
Gene symbol BUB1
Gene name BUB1 mitotic checkpoint serine/threonine kinase
Chromosome 2
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_012048.1
Transcript reference NM_004336.3
Exon/intron information NM_004336.3 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Richarda de Voer
Total number of public variants reported 41
Unique public DNA variants reported 39
Individuals with public variants 31
Hidden variants 4
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 January 23, 2024
Version BUB1:240123

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_004336.3.
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/BUB1
HGNC 1148
Entrez Gene 699
PubMed articles BUB1
OMIM - Gene 602452
HGMD BUB1
GeneCards BUB1
GeneTests BUB1
Orphanet BUB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003559 2 budding uninhibited by benzimidazoles 1 homolog (yeast) NM_004336.3 NP_004327.1 41


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