Varaico: Literature-Extracted Genetic Variants

Gene:BUB3
Variant:p.F264L

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
4 papers
NM_004725.4
p.F264L
c.790T>C
Surrounding Variants
1 paper
NM_004725.4
p.P263Q
c.788C>A
4 papers
NM_004725.4
p.F264L
c.792T>A
4 papers
NM_004725.4
p.F264L
c.792T>G
1 paper
NM_004725.4
p.N265K
c.795C>A
1 paper
NM_004725.4
p.N265K
c.795C>G
1 paper
NM_004725.4
p.K266Q
c.796A>C
1 paper
NM_004725.4
p.K267Q
c.799A>C
1 paper
NM_004725.4
p.R268Q
c.803G>A
1 paper
NM_004725.4
p.Y275C
c.824A>G
1 paper
NM_004725.4
p.G252Splc
c.755-2A>T
1 paper
NM_004725.4
p.S278C
c.832A>T
1 paper
NM_004725.4
p.A280T
c.838G>A
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