Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.S22del1

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.S22del1
c.64_65delAGA
Surrounding Variants
1 paper
NM_001079872.2
p.A17del1
c.49_51delAGC
1 paper
NM_001079872.2
p.A15_A16delFs
c.45_46delCA
1 paper
NM_001079872.2
p.T31A
c.91A>G
2 papers
NM_003588.4
p.P50L
c.149C>T
NM_001079872.2
p.P32L
c.95C>T
1 paper
NM_001079872.2
p.S35A
c.103T>G
1 paper
NM_001079872.2
p.S8delFs
c.22delA
1 paper
NM_001079872.2
p.K38K
c.114G>A
1 paper
NM_001079872.2
p.F6insFs
c.18dupT
1 paper
NM_001079872.2
p.F6delFs
c.17delA
1 paper
NM_001079872.2
p.T4insFs
c.10dupA
1 paper
NM_001079872.2
p.F2insFs
c.5dupT
2 papers
NM_001079872.2
p.N42delFs
c.125_126delGT
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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."