Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.M116I

CUL4B

149 papers

RefSeq Summary

This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell...

Pfam Domains

Cullinaa 204–646UCSCCullin alpha solenoid domain
Cullin_ABaa 668–801UCSCCullin alpha+beta domain
Cullin_Nedd8aa 832–892UCSCCullin protein neddylation domain

Gene Aliases

HGNC Name

cullin 4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079872.2
p.M116I
c.348G>T
Surrounding Variants
1 paper
NM_001079872.2
p.L107V
c.319C>G
1 paper
NM_003588.4
p.S143_S144ins0
c.429_431dupCTC
3 papers
NM_001079872.2
p.S125_S126del1
c.375_377delGAG
1 paper
NM_001079872.2
p.S127P
c.379T>C
2 papers
NM_001079872.2
p.S125_S126del2
c.373_377del6
1 paper
NM_001079872.2
p.D105V
c.314A>T
1 paper
NM_001079872.2
p.T130_A131del1
c.390_392delGCA
1 paper
NM_001079872.2
p.S134_Q135ins4
c.400_404ins12
1 paper
NM_001079872.2
p.K99R
c.296A>G
1 paper
NM_001079872.2
p.Q135_Q136insT
c.403_407ins3
1 paper
NM_001079872.2
p.Q98L
c.293A>T
1 paper
NM_001079872.2
p.I97L
c.289A>C
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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."