Varaico: Literature-Extracted Genetic Variants

Gene:BUB3

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
1–12 of 54 variants
4 papers
NM_004725.4
p.R149Q
c.446G>A
4 papers
NM_004725.4
p.F264L
c.790T>C
4 papers
NM_004725.4
p.F264L
c.792T>A
4 papers
NM_004725.4
p.F264L
c.792T>G
3 papers
NM_004725.4
p.K21N
c.63G>C
3 papers
NM_004725.4
p.K21N
c.63G>T
1 paper
NM_004725.4
p.M1insFs
c.3dupG
1 paper
NM_004725.4
p.M1insFs
c.2_3ins4
1 paper
NM_004725.4
p.G3V
c.8G>T
1 paper
NM_004725.4
p.N5D
c.13A>G
1 paper
NM_004725.4
p.K8insFs
c.23dupA
1 paper
NM_004725.4
p.F22F
c.66C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."