Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.D294N

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
5 papers
NM_004336.5
p.D294N
c.880G>A
Surrounding Variants
1 paper
NM_004336.5
p.D294G
c.881A>G
1 paper
NM_004336.5
p.D294E
c.882T>G
1 paper
NM_004336.5
p.D294E
c.882T>A
1 paper
NM_001278616.2
p.E275V
c.824A>T
1 paper
NM_004336.5
p.S318A
c.952T>G
1 paper
NM_004336.5
p.Q267K
c.799C>A
2 papers
NM_004336.5
p.H265N
c.793C>A
1 paper
NM_004336.5
p.Y259C
c.776A>G
1 paper
NM_004336.5
p.E253Q
c.757G>C
1 paper
NM_004336.5
p.E252K
c.754G>A
1 paper
NM_004336.5
p.R244H
c.731G>A
1 paper
NM_004336.5
p.E232D
c.696G>T
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