Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.E68K

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.E68K
c.202G>A
Surrounding Variants
1 paper
NM_001008895.4
p.R71W
c.211C>T
1 paper
NM_001008895.4
p.T62S
c.184A>T
1 paper
NM_001008895.4
p.S76R
c.228C>A
1 paper
NM_001008895.4
p.S76S
c.228C>T
1 paper
NM_001008895.4
p.T59A
c.175A>G
1 paper
NM_001008895.4
p.Y58F
c.173A>T
1 paper
NM_001008895.4
p.D56E
c.168C>A
1 paper
NM_001008895.4
p.D56E
c.168C>G
1 paper
NM_001008895.4
p.D56N
c.166G>A
1 paper
NM_001008895.4
p.D56Y
c.166G>T
1 paper
NM_001008895.4
p.Y81F
c.242A>T
1 paper
NM_001008895.4
p.P55delFs
c.163delC
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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."