BUB1B gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BUB1B (BUB1 mitotic checkpoint serine/threonine kin...)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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BUB1B gene homepage

General information
Gene symbol	BUB1B
Gene name	BUB1 mitotic checkpoint serine/threonine kinase B
Chromosome	15
Chromosomal band	q15.1
Imprinted	Unknown
Genomic reference	LRG_489
Transcript reference	NM_001211.5
Associated with diseases	MVA1, PCS
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	215
Unique public DNA variants reported	76
Individuals with public variants	260
Hidden variants	0
Date created	May 20, 2020
Date last updated	October 07, 2020
Version	BUB1B:201007

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	1149
Entrez Gene	701
PubMed articles	BUB1B
OMIM - Gene	602860
OMIM - Diseases	MVA1 (Mosaic variegated aneuploidy syndrome 1) PCS (Premature chromatid separation trait)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000019	15	BUB1 mitotic checkpoint serine/threonine kinase B	NM_001211.5	NP_001202.4	215

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