Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.R572C

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
4 papers
NM_003588.4
p.R572C
c.1714C>T
Surrounding Variants
1 paper
NM_001079872.2
p.S551T
c.1651T>A
1 paper
NM_001079872.2
p.E563K
c.1687G>A
1 paper
NM_001079872.2
p.G581S
c.1741G>A
1 paper
NM_001079872.2
p.K601delFs
c.1801delT
1 paper
NM_003588.4
p.A621insFs
c.1862dupC
1 paper
NM_003588.4
p.S620_A621ins0
c.1860_1862dupTGC
1 paper
NM_001079872.2
p.H617Y
c.1849C>T
1 paper
NM_003588.4
p.H635del1
c.1903_1904delATG
1 paper
NM_003588.4
p.E636Splc
c.1906+1G>T
1 paper
NM_003588.4
p.E636Splc
c.1906+1G>A
1 paper
NM_001079872.2
p.N524S
c.1571A>G
2 papers
NM_001079872.2
p.K521R
c.1562A>G
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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."