Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.I44_K47del0

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.I44_K47del0
c.131_139del9
Surrounding Variants
1 paper
NM_003590.5
p.A40_K47delins
c.120_140delinsAAC
1 paper
NM_003590.5
p.Q42_K47del0
c.126_140del15
1 paper
NM_003590.5
p.E43_R46del0
c.127_138del12
4 papers
NM_003590.5
p.R46delFs
c.137delC
1 paper
NM_003590.5
p.Q42_R46del0
c.126_137del12
1 paper
NM_003590.5
p.D35_R46del0
c.105_137del33
1 paper
NM_003590.5
p.N48Y
c.142A>T
1 paper
NM_003590.5
p.W34_K47del0
c.102_140del39
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.L36_N48del0
c.107_142del36
5 papers
NM_003590.5
p.R46fs
c.136_137fs
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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."