Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.D547Y

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.D547Y
c.1639G>T
Surrounding Variants
1 paper
NM_001211.6
p.D547fs
c.1639_1640fs
1 paper
NM_001211.6
p.A546V
c.1637C>T
1 paper
NM_001211.6
p.P548S
c.1642C>T
1 paper
NM_001211.6
p.P545fs
c.1633_1634fs
1 paper
NM_001211.6
p.P545delFs
c.1634delC
1 paper
NM_001211.6
p.R550fs
c.1648_1649fs
4 papers
NM_001211.6
p.R550*
c.1648C>T
3 papers
NM_001211.6
p.P544S
c.1630C>T
15 papers
NM_001211.6
p.R550Q
c.1649G>A
1 paper
NM_001211.6
p.R550_V551insFs
c.1650_1651insC
1 paper
NM_001211.6
p.V551fs
c.1651_1652fs
1 paper
NM_001211.6
p.A553S
c.1657G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."