Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.Q16*

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
4 papers
NM_004336.5
p.Q16*
c.46C>T
Surrounding Variants
1 paper
NM_004336.5
p.M15I
c.45G>T
1 paper
NM_004336.5
p.M15I
c.45G>C
1 paper
NM_004336.5
p.M15I
c.45G>A
1 paper
NM_004336.5
p.M15L
c.43A>T
1 paper
NM_004336.5
p.M15L
c.43A>C
2 papers
NM_004336.5
p.P23A
c.67C>G
1 paper
NM_004336.5
p.W33R
c.97T>A
1 paper
NM_004336.5
p.W33S
c.98G>C
2 papers
NM_004336.5
p.V34I
c.100G>A
1 paper
NM_004336.5
p.E36D
c.108G>T
1 paper
NM_004336.5
p.E36D
c.108G>C
1 paper
NM_004336.5
p.P39A
c.115C>G
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