Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.E238*

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.E238*
c.712G>T
Surrounding Variants
1 paper
NM_003590.5
p.E238K
c.712G>A
1 paper
NM_003590.5
p.A239A
c.717T>A
1 paper
NM_003590.5
p.R240*
c.718A>T
1 paper
NM_003590.5
p.K235delFs
c.705delC
1 paper
NM_003590.5
p.K235N
c.705G>T
1 paper
NM_003590.5
p.R240T
c.719G>C
1 paper
NM_003590.5
p.K235N
c.705G>C
1 paper
NM_003590.5
p.R240K
c.719G>A
1 paper
NM_003590.5
p.V232_I241delFs
c.694_722del29
1 paper
NM_003590.5
p.Y233fs
c.697_698fs
1 paper
NM_003590.5
p.E244Q
c.730G>C
1 paper
NM_003590.5
p.S231_V232insTA
c.691_695ins6
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