Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R814H

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
13 papers
NM_001211.6
p.R814H
c.2441G>A
Surrounding Variants
1 paper
NM_001211.6
p.E813A
c.2438A>C
1 paper
NM_001211.6
p.E813*
c.2437G>T
1 paper
NM_001211.6
p.N816S
c.2447A>G
1 paper
NM_001211.6
p.K812E
c.2434A>G
1 paper
NM_001211.6
p.H821R
c.2462A>G
2 papers
NM_001211.6
p.F805L
c.2415T>A
2 papers
NM_001211.6
p.F805L
c.2415T>G
1 paper
NM_001211.6
p.S824delFs
c.2470delA
2 papers
NM_001211.6
p.F805L
c.2413T>C
1 paper
NM_001211.6
p.S824fs
c.2470_2471fs
1 paper
NM_001211.6
p.S824R
c.2470A>C
2 papers
NM_001211.6
p.D804G
c.2411A>G
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