Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R381insFs

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.R381insFs
c.1141_1142insA
Surrounding Variants
1 paper
NM_001211.6
p.R381fs
c.1141_1142fs
1 paper
NM_001211.6
p.P378S
c.1132C>T
1 paper
NM_001211.6
p.P378_Q386del0
c.1133_1156del24
1 paper
NM_001211.6
p.G376V
c.1127G>T
2 papers
NM_001211.6
p.S384G
c.1150A>G
1 paper
NM_001211.6
p.K373K
c.1119G>A
1 paper
NM_001211.6
p.A388V
c.1163C>T
6 papers
NM_001211.6
p.A388A
c.1164G>A
1 paper
NM_001211.6
p.S389C
c.1166C>G
6 papers
NM_001211.6
p.E391del1
c.1171_1173delGAG
6 papers
NM_001211.6
p.E390D
c.1170G>C
6 papers
NM_001211.6
p.E390D
c.1170G>T
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