Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.E192insFs

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.E192insFs
c.575_576insT
Surrounding Variants
1 paper
NM_004336.5
p.E192fs
c.574_575fs
1 paper
NM_004336.5
p.C201delFs
c.601delA
1 paper
NM_004336.5
p.K203_E204del1
c.609_611delTCT
1 paper
NM_004336.5
p.R209*
c.625C>T
1 paper
NM_004336.5
p.V221insFs
c.661dupG
10 papers
NM_004336.5
p.A226V
c.677C>T
1 paper
NM_004336.5
p.S220_A226del0
c.660_677del18
1 paper
NM_004336.5
p.E232D
c.696G>T
1 paper
NM_004336.5
p.E232D
c.696G>C
1 paper
NM_004336.5
p.R244H
c.731G>A
1 paper
NM_004336.5
p.E252K
c.754G>A
1 paper
NM_004336.5
p.E253Q
c.757G>C
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