Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.F175L

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.F175L
c.525T>G
Surrounding Variants
1 paper
NM_001211.6
p.F175L
c.525T>A
1 paper
NM_001211.6
p.F175L
c.523T>C
1 paper
NM_001211.6
p.I174M
c.522A>G
1 paper
NM_001211.6
p.I174L
c.520A>T
1 paper
NM_001211.6
p.A173V
c.518C>T
1 paper
NM_001211.6
p.G178E
c.533G>A
1 paper
NM_001211.6
p.Q180H
c.540A>C
1 paper
NM_001211.6
p.Q180H
c.540A>T
2 papers
NM_001211.6
p.Q181R
c.542A>G
1 paper
NM_001211.6
p.K170E
c.508A>G
1 paper
NM_001211.6
p.K170*
c.508A>T
1 paper
NM_001211.6
p.A183S
c.547G>T
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