Varaico: Literature-Extracted Genetic Variants

Gene:BUB3
Variant:p.R225G

BUB3

61 papers

RefSeq Summary

This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptio...

Pfam Domains

WD40aa 4–43UCSCWD domain, G-beta repeat
WD40aa 88–124UCSCWD domain, G-beta repeat
WD40aa 219–262UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

BUB3 mitotic checkpoint protein

HGNC Alias Symbol

BUB3L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004725.4
p.R225G
c.673A>G
Surrounding Variants
1 paper
NM_004725.4
p.K218E
c.652A>G
1 paper
NM_004725.4
p.E232G
c.695A>G
1 paper
NM_004725.4
p.K217E
c.649A>G
1 paper
NM_004725.4
p.K216E
c.646A>G
1 paper
NM_004725.4
p.K218del1
c.652_653delAAG
1 paper
NM_004725.4
p.E213Q
c.637G>C
1 paper
NM_004725.4
p.P210L
c.629C>T
1 paper
NM_004725.4
p.V203_A204del1
c.609_611delGGC
1 paper
NM_004725.4
p.G252Splc
c.755-2A>T
1 paper
NM_004725.4
p.P263Q
c.788C>A
4 papers
NM_004725.4
p.F264L
c.790T>C
4 papers
NM_004725.4
p.F264L
c.792T>A
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