Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.L268insFs

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
3 papers
NM_001079872.2
p.L268insFs
c.803dupT
Surrounding Variants
2 papers
NM_001079872.2
p.L268fs
c.802_803fs
2 papers
NM_001079872.2
p.L268fs
c.802_803fs
2 papers
NM_001079872.2
p.I271delFs
c.811_812delAT
1 paper
NM_001079872.2
p.R273*
c.817A>T
1 paper
NM_001079872.2
p.D263G
c.788A>G
1 paper
NM_001079872.2
p.L262delFs
c.785delA
1 paper
NM_003588.4
p.L280M
c.838T>A
1 paper
NM_001079872.2
p.N277S
c.830A>G
1 paper
NM_001079872.2
p.R280*
c.838A>T
1 paper
NM_001079872.2
p.H255Y
c.763C>T
1 paper
NM_001079872.2
p.L242L
c.724C>T
1 paper
NM_003588.4
p.V244V
c.732A>G
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