Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.W569*

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.W569*
c.1706G>A
Surrounding Variants
1 paper
NM_001008895.4
p.W569*
c.1707G>A
1 paper
NM_001008895.4
p.K566K
c.1698A>G
2 papers
NM_001008895.4
p.G574G
c.1722A>G
1 paper
NM_001008895.4
p.H575Y
c.1723C>T
1 paper
NM_001008895.4
p.A580V
c.1739C>T
1 paper
NM_001008895.4
p.Q590*
c.1768C>T
1 paper
NM_001008895.4
p.T596A
c.1786A>G
1 paper
NM_001008895.4
p.M601delFs
c.1801delA
1 paper
NM_001008895.4
p.N603K
c.1809C>A
1 paper
NM_001008895.4
p.E604E
c.1812G>A
1 paper
NM_001008895.4
p.E620Splc
c.1858+17G>A
1 paper
NM_001008895.4
p.P643_K644insTA
c.1927_1931ins6
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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."