Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.S492Y

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.S492Y
c.1475C>A
Surrounding Variants
1 paper
NM_004336.5
p.S492F
c.1475C>T
1 paper
NM_004336.5
p.N496S
c.1487A>G
1 paper
NM_004336.5
p.D486G
c.1457A>G
1 paper
NM_004336.5
p.A477T
c.1429G>A
1 paper
NM_004336.5
p.Q476*
c.1426C>T
1 paper
NM_004336.5
p.G469R
c.1405G>C
1 paper
NM_004336.5
p.S459T
c.1375T>A
1 paper
NM_004336.5
p.V456A
c.1367T>C
1 paper
NM_001278616.2
p.M428V
c.1282A>G
1 paper
NM_004336.5
p.S445*
c.1334C>G
1 paper
NM_004336.5
p.S445*
c.1334C>A
1 paper
NM_004336.5
p.T441A
c.1321A>G
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