Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.V745A

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.V745A
c.2234T>C
Surrounding Variants
1 paper
NM_001079872.2
p.L729fs
c.2185_2186fs
1 paper
NM_001079872.2
p.E720_G721Splc
c.2161-2A>G
1 paper
NM_001079872.2
p.E743*
c.2227G>T
1 paper
NM_001079872.2
p.E717delFs
c.2149_2150delTC
2 papers
NM_001079872.2
p.C712delFs
c.2134_2135delCA
2 papers
NM_001079872.2
p.L714fs
c.2140_2141fs
1 paper
NM_001079872.2
p.S699G
c.2095A>G
1 paper
NM_001079872.2
p.E688K
c.2062G>A
1 paper
NM_001079872.2
p.L686L
c.2058T>A
3 papers
NM_003588.4
p.K703*
c.2107A>T
2 papers
NM_003588.4
p.L785del1
c.2353_2355delTAA
NM_001079872.2
p.L767del1
c.2353_2354delTAA
1 paper
NM_003588.4
p.C787insFs
c.2361dupT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."