Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.Q827R

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.Q827R
c.2480A>G
Surrounding Variants
1 paper
NM_001211.6
p.Q827delFs
c.2481delA
4 papers
NM_001211.6
p.Q829E
c.2485C>G
1 paper
NM_001211.6
p.C825F
c.2474G>T
1 paper
NM_001211.6
p.S824R
c.2472C>A
1 paper
NM_001211.6
p.S824R
c.2472C>G
1 paper
NM_001211.6
p.S824fs
c.2470_2471fs
1 paper
NM_001211.6
p.S824R
c.2470A>C
1 paper
NM_001211.6
p.S824delFs
c.2470delA
1 paper
NM_001211.6
p.G831V
c.2492G>T
1 paper
NM_001211.6
p.H821R
c.2462A>G
1 paper
NM_001211.6
p.W835*
c.2504G>A
1 paper
NM_001211.6
p.W835*
c.2505G>A
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