Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.M249I

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
2 papers
NM_003590.5
p.M249I
c.747G>T
Surrounding Variants
2 papers
NM_003590.5
p.M249I
c.747G>C
2 papers
NM_003590.5
p.M249I
c.747G>A
1 paper
NM_003590.5
p.H250R
c.749A>G
1 paper
NM_003590.5
p.C251R
c.751T>C
1 paper
NM_003590.5
p.R247Q
c.740G>A
1 paper
NM_003590.5
p.R247*
c.739C>T
6 papers
NM_003590.5
p.E246*
c.736G>T
1 paper
NM_003590.5
p.E246K
c.736G>A
1 paper
NM_003590.5
p.E244Q
c.730G>C
2 papers
NM_003590.5
p.S255*
c.764C>G
2 papers
NM_003590.5
p.S255*
c.764C>A
1 paper
NM_003590.5
p.T256M
c.767C>T
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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."