Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.L785del1

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
2 papers
NM_003588.4
p.L785del1
c.2353_2355delTAA
NM_001079872.2
p.L767del1
c.2353_2354delTAA
Surrounding Variants
1 paper
NM_003588.4
p.C787insFs
c.2361dupT
1 paper
NM_001079872.2
p.N778_P779delFs
c.2332_2336del5
1 paper
NM_001079872.2
p.K782N
c.2346A>T
1 paper
NM_001079872.2
p.K782N
c.2346A>C
1 paper
NM_003588.4
p.I823M
c.2469C>G
2 papers
NM_001079872.2
p.K811_E812del2
c.2431_2435del6
2 papers
NM_003588.4
p.T831T
c.2493G>A
1 paper
NM_003588.4
p.T831_V832Splc
c.2493+3A>G
1 paper
NM_001079872.2
p.E743*
c.2227G>T
1 paper
NM_001079872.2
p.L729fs
c.2185_2186fs
4 papers
NM_003588.4
p.V745A
c.2234T>C
1 paper
NM_001079872.2
p.E720_G721Splc
c.2161-2A>G
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