Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A

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
1–12 of 140 variants
7 papers
NM_001008895.4
p.K644R
c.1931A>G
4 papers
NM_001008895.4
p.V129A
c.386T>C
3 papers
NM_001008895.4
p.A335V
c.1004C>T
2 papers
NM_001008895.4
p.K33R
c.98A>G
2 papers
NM_001008895.4
p.M101V
c.301A>G
2 papers
NM_001008895.4
p.R107C
c.319C>T
2 papers
NM_001008895.4
p.R107P
c.320G>C
2 papers
NM_001008895.4
p.G206S
c.616G>A
2 papers
NM_001008895.4
p.E207K
c.619G>A
2 papers
NM_001008895.4
p.G574G
c.1722A>G
2 papers
NM_001008895.4
p.K705R
c.2114A>G
2 papers
NM_001008895.4
p.V758M
c.2272G>A
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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."