Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.T509delFs

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.T509delFs
c.1526delG
Surrounding Variants
1 paper
NM_003590.5
p.T509fs
c.1525_1526fs
3 papers
NM_003590.5
p.T509fs
c.1525_1526fs
1 paper
NM_003590.5
p.Y512delFs
c.1535delT
5 papers
NM_003590.5
p.W513*
c.1538G>A
4 papers
NM_003590.5
p.R506W
c.1516C>T
5 papers
NM_003590.5
p.W513*
c.1539G>A
1 paper
NM_003590.5
p.T504fs
c.1510_1511fs
1 paper
NM_003590.5
p.T504insFs
c.1510dupA
1 paper
NM_003590.5
p.Q516*
c.1546C>T
3 papers
NM_003590.5
p.S517fs
c.1549_1550fs
1 paper
NM_003590.5
p.S517*
c.1550C>G
9 papers
NM_003590.5
p.V501I
c.1501G>A
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