Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.L55R

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.L55R
c.164T>G
Surrounding Variants
1 paper
NM_001211.6
p.L55V
c.163C>G
1 paper
NM_001211.6
p.Q56*
c.166C>T
1 paper
NM_001211.6
p.T54I
c.161C>T
1 paper
NM_001211.6
p.T54A
c.160A>G
1 paper
NM_001211.6
p.C51R
c.151T>C
1 paper
NM_001211.6
p.R60Q
c.179G>A
1 paper
NM_001211.6
p.S49C
c.146C>G
1 paper
NM_001211.6
p.E48G
c.143A>G
1 paper
NM_001211.6
p.A46G
c.137C>G
1 paper
NM_001211.6
p.Q42R
c.125A>G
1 paper
NM_001211.6
p.L41_Q42insFs
c.123_124insT
9 papers
NM_001211.6
p.T40M
c.119C>T
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