Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R748T

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.R748T
c.2243G>C
Surrounding Variants
1 paper
NM_001211.6
p.M750I
c.2250G>A
1 paper
NM_001211.6
p.M750I
c.2250G>C
1 paper
NM_001211.6
p.M750I
c.2250G>T
1 paper
NM_001211.6
p.I755T
c.2264T>C
1 paper
NM_001211.6
p.A739G
c.2216C>G
1 paper
NM_001211.6
p.A739P
c.2215G>C
8 papers
NM_001211.6
p.L737*
c.2210T>A
9 papers
NM_001211.6
p.L737*
c.2210T>G
1 paper
NM_001211.6
p.L737fs
c.2209_2210fs
4 papers
NM_001211.6
p.L737_S738insFs
c.2211_2212ins4
1 paper
NM_001211.6
p.P735L
c.2204C>T
1 paper
NM_001211.6
p.G762S
c.2284G>A
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