Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.V471A

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.V471A
c.1412T>C
Surrounding Variants
1 paper
NM_001079872.2
p.L472V
c.1414C>G
1 paper
NM_001079872.2
p.W476*
c.1427G>A
1 paper
NM_001079872.2
p.W476*
c.1428G>A
3 papers
NM_001079872.2
p.R466*
c.1396C>T
1 paper
NM_003588.4
p.S481_R482del2
c.1441_1445del6
1 paper
NM_001079872.2
p.L461delFs
c.1381delG
1 paper
NM_001079872.2
p.L457P
c.1370T>C
1 paper
NM_001079872.2
p.R451*
c.1351C>T
1 paper
NM_001079872.2
p.L447I
c.1339C>A
1 paper
NM_001079872.2
p.I489V
c.1465A>G
1 paper
NM_001079872.2
p.N490K
c.1470T>A
1 paper
NM_001079872.2
p.V498fs
c.1492_1493fs
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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."