Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.A733insFs

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
3 papers
NM_004336.5
p.A733insFs
c.2197dupG
Surrounding Variants
2 papers
NM_004336.5
p.D732fs
c.2194_2195fs
1 paper
NM_004336.5
p.S727A
c.2179T>G
1 paper
NM_004336.5
p.Q724H
c.2172G>T
1 paper
NM_004336.5
p.Q724H
c.2172G>C
1 paper
NM_004336.5
p.W722*
c.2166G>A
1 paper
NM_004336.5
p.W722*
c.2165G>A
1 paper
NM_004336.5
p.C698Y
c.2093G>A
1 paper
NM_004336.5
p.V695F
c.2083G>T
1 paper
NM_004336.5
p.A682T
c.2044G>A
1 paper
NM_004336.5
p.P681S
c.2041C>T
1 paper
NM_004336.5
p.R677H
c.2030G>A
1 paper
NM_004336.5
p.R677C
c.2029C>T
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