Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.D364H

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.D364H
c.1090G>C
Surrounding Variants
1 paper
NM_001008895.4
p.D358E
c.1074C>A
1 paper
NM_001008895.4
p.D358E
c.1074C>G
1 paper
NM_001008895.4
p.D370_K371ins10
c.1108_1112ins30
1 paper
NM_001008895.4
p.V375M
c.1123G>A
1 paper
NM_001008895.4
p.E377V
c.1130A>T
1 paper
NM_001008895.4
p.T346S
c.1037C>G
1 paper
NM_001008895.4
p.T346S
c.1036A>T
1 paper
NM_001008895.4
p.K382insFs
c.1145_1146insGT
1 paper
NM_001008895.4
p.V387I
c.1159G>A
1 paper
NM_001008895.4
p.V387delFs
c.1161delC
1 paper
NM_001008895.4
p.R401R
c.1203A>G
1 paper
NM_001008895.4
p.E407G
c.1220A>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."