Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.E291Q

CUL4A

157 papers

RefSeq Summary

CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009].

Pfam Domains

Cullinaa 1–413UCSCCullin alpha solenoid domain
Cullin_ABaa 435–568UCSCCullin alpha+beta domain
Cullin_Nedd8aa 599–659UCSCCullin protein neddylation domain

Gene Aliases

HGNC Name

cullin 4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008895.4
p.E291Q
c.871G>C
Surrounding Variants
1 paper
NM_001008895.4
p.D279Y
c.835G>T
1 paper
NM_001008895.4
p.V274I
c.820G>A
1 paper
NM_001008895.4
p.R273*
c.817A>T
1 paper
NM_001008895.4
p.H262delFs
c.785delA
1 paper
NM_001008895.4
p.N261T
c.782A>C
1 paper
NM_001008895.4
p.Y259*
c.777T>A
1 paper
NM_001008895.4
p.Y259*
c.777T>G
1 paper
NM_001008895.4
p.P257Q
c.770C>A
1 paper
NM_001008895.4
p.P317S
c.949C>T
1 paper
NM_001008895.4
p.D318Y
c.952G>T
1 paper
NM_001008895.4
p.Q324K
c.970C>A
1 paper
NM_001008895.4
p.Q324H
c.972G>C
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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."