Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.N1032H

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
10 papers
NM_001211.6
p.N1032H
c.3094A>C
Surrounding Variants
1 paper
NM_001211.6
p.L1031V
c.3091C>G
2 papers
NM_001211.6
p.K1033K
c.3099A>G
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.T1025I
c.3074C>T
1 paper
NM_001211.6
p.L1041_T1042del2
c.3121_3125del6
1 paper
NM_001211.6
p.F1023fs
c.3067_3068fs
1 paper
NM_001211.6
p.T1042A
c.3124A>G
1 paper
NM_001211.6
p.F1023delFs
c.3069delT
1 paper
NM_001211.6
p.P1044_G1045insA
c.3130_3134ins3
1 paper
NM_001211.6
p.G1013E
c.3038G>A
13 papers
NM_001211.6
p.L1012P
c.3035T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."