Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.S569*

BUB1B

407 papers

RefSeq Summary

This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (AP...

Pfam Domains

Mad3_BUB1_Iaa 57–179UCSCMad3/BUB1 homology region 1

Gene Aliases

HGNC Name

BUB1 mitotic checkpoint serine/threonine kinase B

HGNC Alias Symbols

BUBR1; MAD3L; Bub1A; SSK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001211.6
p.S569*
c.1706C>G
Surrounding Variants
1 paper
NM_001211.6
p.S569*
c.1706C>A
1 paper
NM_001211.6
p.I567V
c.1699A>G
1 paper
NM_001211.6
p.S574A
c.1720T>G
1 paper
NM_001211.6
p.D576H
c.1726G>C
1 paper
NM_001211.6
p.D576E
c.1728T>A
1 paper
NM_001211.6
p.D576E
c.1728T>G
1 paper
NM_001211.6
p.C578F
c.1733G>T
1 paper
NM_001211.6
p.C578_D579Splc
c.1734+1G>T
1 paper
NM_001211.6
p.P557R
c.1670C>G
1 paper
NM_001211.6
p.R555*
c.1663C>T
1 paper
NM_001211.6
p.A553S
c.1657G>T
1 paper
NM_001211.6
p.V551fs
c.1651_1652fs
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