Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.L730Q

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.L730Q
c.2189T>A
Surrounding Variants
1 paper
NM_001211.6
p.L731L
c.2193G>A
1 paper
NM_001211.6
p.R727H
c.2180G>A
6 papers
NM_001211.6
p.R727C
c.2179C>T
1 paper
NM_001211.6
p.Y726*
c.2178T>A
1 paper
NM_001211.6
p.Y726*
c.2178T>G
1 paper
NM_001211.6
p.P735L
c.2204C>T
4 papers
NM_001211.6
p.L737_S738insFs
c.2211_2212ins4
1 paper
NM_001211.6
p.L737fs
c.2209_2210fs
8 papers
NM_001211.6
p.L737*
c.2210T>A
9 papers
NM_001211.6
p.L737*
c.2210T>G
4 papers
NM_001211.6
p.W722R
c.2164T>A
4 papers
NM_001211.6
p.W722R
c.2164T>C
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