Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.F1023fs

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.F1023fs
c.3067_3068fs
Surrounding Variants
1 paper
NM_001211.6
p.F1023delFs
c.3069delT
1 paper
NM_001211.6
p.T1025I
c.3074C>T
1 paper
NM_001211.6
p.S1029fs
c.3085_3086fs
1 paper
NM_001211.6
p.S1029delFs
c.3086delG
1 paper
NM_001211.6
p.L1031V
c.3091C>G
10 papers
NM_001211.6
p.N1032H
c.3094A>C
1 paper
NM_001211.6
p.G1013E
c.3038G>A
2 papers
NM_001211.6
p.K1033K
c.3099A>G
13 papers
NM_001211.6
p.L1012P
c.3035T>C
1 paper
NM_001211.6
p.S1010F
c.3029C>T
1 paper
NM_001211.6
p.V1009G
c.3026T>G
1 paper
NM_001211.6
p.T1008P
c.3022A>C
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