Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.Q45*

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
1 paper
NM_003590.5
p.Q45*
c.133C>T
Surrounding Variants
1 paper
NM_003590.5
p.I41_I44del0
c.121_132del12
1 paper
NM_003590.5
p.I44delins
c.130_131delinsAT
1 paper
NM_003590.5
p.Q42_I44del0
c.126_131del6
1 paper
NM_003590.5
p.I44delins
c.130_131delinsAA
1 paper
NM_003590.5
p.Q42_Q45del0
c.126_134del9
1 paper
NM_003590.5
p.I41_Q45del0
c.123_134del12
5 papers
NM_003590.5
p.R46fs
c.136_137fs
1 paper
NM_003590.5
p.N39_Q45del0
c.115_135del21
1 paper
NM_003590.5
p.I44delins
c.130_131delinsTT
1 paper
NM_003590.5
p.R46H
c.137G>A
1 paper
NM_003590.5
p.Q42_Q45del0
c.124_135del12
1 paper
NM_003590.5
p.I41_E43delins
c.121_129delinsTTG
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