Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.K821M

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.K821M
c.2462A>T
Surrounding Variants
2 papers
NM_004336.5
p.K821R
c.2462A>G
1 paper
NM_004336.5
p.L820_K821delFs
c.2459_2463del5
1 paper
NM_004336.5
p.L820fs
c.2458_2459fs
1 paper
NM_004336.5
p.L820I
c.2458T>A
1 paper
NM_004336.5
p.Q806R
c.2417A>G
1 paper
NM_004336.5
p.A797D
c.2390C>A
5 papers
NM_004336.5
p.P825S
c.2473C>T
1 paper
NM_004336.5
p.A826A
c.2478C>T
1 paper
NM_004336.5
p.P828R
c.2483C>G
1 paper
NM_001278616.2
p.R820G
c.2458A>G
1 paper
NM_004336.5
p.Q846R
c.2537A>G
1 paper
NM_004336.5
p.Y853C
c.2558A>G
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