Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R416Q

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.R416Q
c.1247G>A
Surrounding Variants
1 paper
NM_001211.6
p.R416L
c.1247G>T
2 papers
NM_001211.6
p.R416W
c.1246C>T
1 paper
NM_001211.6
p.E418Q
c.1252G>C
8 papers
NM_001211.6
p.E413K
c.1237G>A
1 paper
NM_001211.6
p.F412S
c.1235T>C
3 papers
NM_001211.6
p.R421W
c.1261C>T
1 paper
NM_001211.6
p.S411C
c.1232C>G
2 papers
NM_001211.6
p.R421Q
c.1262G>A
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.F410S
c.1229T>C
1 paper
NM_001211.6
p.K423delFs
c.1269delA
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