Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R349Q

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
20 papers
NM_001211.6
p.R349Q
c.1046G>A
Surrounding Variants
2 papers
NM_001211.6
p.R349delFs
c.1045delC
1 paper
NM_001211.6
p.Q350K
c.1048C>A
1 paper
NM_001211.6
p.A348_R349insFs
c.1044_1045insA
1 paper
NM_001211.6
p.A348V
c.1043C>T
1 paper
NM_001211.6
p.A348T
c.1042G>A
1 paper
NM_001211.6
p.T347_A348delFs
c.1041_1042delTG
1 paper
NM_001211.6
p.P351P
c.1053A>T
1 paper
NM_001211.6
p.T347_A348del2
c.1039_1043del6
1 paper
NM_001211.6
p.M353T
c.1058T>C
1 paper
NM_001211.6
p.Y343F
c.1028A>T
1 paper
NM_001211.6
p.S339_T341delFs
c.1017_1021del5
1 paper
NM_001211.6
p.A335T
c.1003G>A
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