Varaico: Literature-Extracted Genetic Variants

Gene:BUB1
Variant:p.N883insFs

BUB1

213 papers

RefSeq Summary

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activati...

Pfam Domains

Mad3_BUB1_Iaa 6–126UCSCMad3/BUB1 homology region 1
Pkinaseaa 787–1046UCSCProtein kinase domain

Gene Aliases

HGNC Name

BUB1 mitotic checkpoint serine/threonine kinase

HGNC Previous Symbol

BUB1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004336.5
p.N883insFs
c.2648dupA
Surrounding Variants
1 paper
NM_004336.5
p.N883fs
c.2647_2648fs
1 paper
NM_004336.5
p.M889K
c.2666T>A
1 paper
NM_004336.5
p.L875_N876Splc
c.2626-1G>T
1 paper
NM_004336.5
p.G928R
c.2782G>A
3 papers
NM_004336.5
p.L875_N876Splc
c.2625+1G>A
1 paper
NM_004336.5
p.L864ins0
c.2590_2592dupTTA
1 paper
NM_004336.5
p.G928R
c.2782G>C
1 paper
NM_004336.5
p.G928R
c.2782G>A
1 paper
NM_004336.5
p.D933V
c.2798A>T
1 paper
NM_004336.5
p.D934G
c.2801A>G
1 paper
NM_004336.5
p.D936_D937delFs
c.2808_2811del4
1 paper
NM_004336.5
p.L938F
c.2814A>C
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