Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.E409D

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
6 papers
NM_001211.6
p.E409D
c.1227A>T
Surrounding Variants
7 papers
NM_001211.6
p.E409D
c.1227A>C
1 paper
NM_001211.6
p.F410L
c.1228T>C
3 papers
NM_001211.6
p.E409K
c.1225G>A
1 paper
NM_001211.6
p.F410S
c.1229T>C
1 paper
NM_001211.6
p.F410L
c.1230C>A
1 paper
NM_001211.6
p.F410L
c.1230C>G
1 paper
NM_001211.6
p.S411C
c.1232C>G
2 papers
NM_001211.6
p.V407G
c.1220T>G
1 paper
NM_001211.6
p.F412S
c.1235T>C
8 papers
NM_001211.6
p.E413K
c.1237G>A
1 paper
NM_001211.6
p.V407del1
c.1219_1221delGTA
1 paper
NM_001211.6
p.Y404*
c.1212T>A
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