Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.Q45_N49del0

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_N49del0
c.133_147del15
Surrounding Variants
1 paper
NM_003590.5
p.N49delFs
c.147delG
1 paper
NM_003590.5
p.Q42_N49del0
c.124_147del24
1 paper
NM_003590.5
p.S50N
c.149G>A
1 paper
NM_003590.5
p.I41_S50del0
c.122_148del27
1 paper
NM_003590.5
p.A40_S50del0
c.119_148del30
1 paper
NM_003590.5
p.Q45_N49del0
c.134_145del12
1 paper
NM_003590.5
p.E43_N49del0
c.129_146del18
1 paper
NM_003590.5
p.I44_S50delins
c.132_150delinsG
1 paper
NM_003590.5
p.I41_N48del0
c.121_144del24
1 paper
NM_003590.5
p.A40_N49del0
c.119_145del27
1 paper
NM_003590.5
p.G51_L52insGAA
c.151_155ins9
2 papers
NM_003590.5
p.N49D
c.145A>G
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