Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.R388*

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_003588.4
p.R388*
c.1162C>T
Surrounding Variants
2 papers
NM_001079872.2
p.T375_R377del3
c.1123_1130del9
1 paper
NM_001079872.2
p.M387delFs
c.1161delC
1 paper
NM_001079872.2
p.R340S
c.1020G>T
1 paper
NM_001079872.2
p.R340S
c.1020G>C
4 papers
NM_001079872.2
p.I336_E337delFs
c.1007_1011del5
3 papers
NM_001079872.2
p.I336fs
c.1006_1007fs
1 paper
NM_001079872.2
p.I336fs
c.1006_1007fs
1 paper
NM_001079872.2
p.L334_L335delFs
c.1000_1004del5
1 paper
NM_001079872.2
p.L396L
c.1186C>T
1 paper
NM_001079872.2
p.K327M
c.980A>T
5 papers
NM_003588.4
p.I336_I337delFs
c.1007_1011del5
NM_001079872.2
p.I318_I319delFs
c.953_957del5
2 papers
NM_001079872.2
p.I318fs
c.952_953fs
NM_003588.4
p.I336fs
c.1006_1007fs
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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."