Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.E604E

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.E604E
c.1812G>A
Surrounding Variants
1 paper
NM_001008895.4
p.N603K
c.1809C>A
1 paper
NM_001008895.4
p.M601delFs
c.1801delA
1 paper
NM_001008895.4
p.T596A
c.1786A>G
1 paper
NM_001008895.4
p.Q590*
c.1768C>T
1 paper
NM_001008895.4
p.E620Splc
c.1858+17G>A
1 paper
NM_001008895.4
p.P643_K644insTA
c.1927_1931ins6
7 papers
NM_001008895.4
p.K644R
c.1931A>G
1 paper
NM_001008895.4
p.G645A
c.1934G>C
1 paper
NM_001008895.4
p.G651V
c.1952G>T
1 paper
NM_001008895.4
p.G658R
c.1972G>A
1 paper
NM_001008895.4
p.K663*
c.1987A>T
1 paper
NM_001008895.4
p.F665C
c.1994T>G
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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."