Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.C241Y

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.C241Y
c.722G>A
Surrounding Variants
1 paper
NM_001008895.4
p.E246K
c.736G>A
1 paper
NM_001008895.4
p.E253K
c.757G>A
1 paper
NM_001008895.4
p.Q225_V226Splc
c.676-1G>A
1 paper
NM_001008895.4
p.S222C
c.665C>G
1 paper
NM_001008895.4
p.R215R
c.645G>A
1 paper
NM_001008895.4
p.R215Q
c.644G>A
2 papers
NM_001008895.4
p.E207K
c.619G>A
2 papers
NM_001008895.4
p.G206S
c.616G>A
1 paper
NM_001008895.4
p.L199Q
c.596T>A
1 paper
NM_001008895.4
p.I193V
c.577A>G
1 paper
NM_001008895.4
p.I182I
c.546T>A
1 paper
NM_001008895.4
p.I182V
c.544A>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."