Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.R546*

CUL3

494 papers

RefSeq Summary

This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core compo...

Pfam Domains

Cullinaa 34–484UCSCCullin alpha solenoid domain
Cullin_ABaa 507–665UCSCCullin alpha+beta domain
Cullin_Nedd8aa 698–760UCSCCullin protein neddylation domain

Gene Aliases

HGNC Name

cullin 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_003590.5
p.R546*
c.1636C>T
NM_001257197.2
p.R480*
c.1438C>T
Surrounding Variants
1 paper
NM_003590.5
p.R546P
c.1637G>C
2 papers
NM_003590.5
p.Q547H
c.1641G>T
2 papers
NM_003590.5
p.Q547H
c.1641G>C
2 papers
NM_003590.5
p.K542I
c.1625A>T
1 paper
NM_003590.5
p.Q551E
c.1651C>G
4 papers
NM_003590.5
p.H552Y
c.1654C>T
1 paper
NM_003590.5
p.Y539C
c.1616A>G
1 paper
NM_003590.5
p.M554T
c.1661T>C
1 paper
NM_003590.5
p.R537S
c.1611G>T
1 paper
NM_003590.5
p.R537S
c.1611G>C
2 papers
NM_003590.5
p.G555insFs
c.1664dupG
2 papers
NM_003590.5
p.S556fs
c.1666_1667fs
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