Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.Y853C

BUB1

213 papers

RefSeq Summary

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activati...

Pfam Domains

Mad3_BUB1_Iaa 6–126UCSCMad3/BUB1 homology region 1
Pkinaseaa 787–1046UCSCProtein kinase domain

Gene Aliases

HGNC Name

BUB1 mitotic checkpoint serine/threonine kinase

HGNC Previous Symbol

BUB1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004336.5
p.Y853C
c.2558A>G
Surrounding Variants
1 paper
NM_004336.5
p.Q846R
c.2537A>G
1 paper
NM_004336.5
p.L864ins0
c.2590_2592dupTTA
1 paper
NM_001278616.2
p.R820G
c.2458A>G
3 papers
NM_004336.5
p.L875_N876Splc
c.2625+1G>A
1 paper
NM_004336.5
p.P828R
c.2483C>G
1 paper
NM_004336.5
p.A826A
c.2478C>T
5 papers
NM_004336.5
p.P825S
c.2473C>T
1 paper
NM_004336.5
p.L875_N876Splc
c.2626-1G>T
1 paper
NM_004336.5
p.N883fs
c.2647_2648fs
1 paper
NM_004336.5
p.N883insFs
c.2648dupA
1 paper
NM_004336.5
p.M889K
c.2666T>A
1 paper
NM_004336.5
p.G928R
c.2782G>A
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