Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.W803R

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.W803R
c.2407T>C
Surrounding Variants
1 paper
NM_001211.6
p.W803R
c.2407T>A
1 paper
NM_001211.6
p.W803fs
c.2407_2408fs
2 papers
NM_001211.6
p.D804G
c.2411A>G
1 paper
NM_001211.6
p.P802insFs
c.2405_2406insCC
2 papers
NM_001211.6
p.F805L
c.2413T>C
2 papers
NM_001211.6
p.F805L
c.2415T>A
2 papers
NM_001211.6
p.F805L
c.2415T>G
1 paper
NM_001211.6
p.P800S
c.2398C>T
1 paper
NM_001211.6
p.Q799*
c.2395C>T
2 papers
NM_001211.6
p.S797C
c.2390C>G
1 paper
NM_001211.6
p.S797A
c.2389T>G
1 paper
NM_001211.6
p.V796fs
c.2386_2387fs
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