Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.V129A

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
4 papers
NM_001008895.4
p.V129A
c.386T>C
Surrounding Variants
1 paper
NM_001008895.4
p.S125L
c.374C>T
1 paper
NM_001008895.4
p.D124G
c.371A>G
1 paper
NM_001008895.4
p.D124insFs
c.370_371ins10
1 paper
NM_001008895.4
p.Y160F
c.479A>T
1 paper
NM_001008895.4
p.G174R
c.520G>A
1 paper
NM_001008895.4
p.G174R
c.520G>C
1 paper
NM_001008895.4
p.I182V
c.544A>G
1 paper
NM_001008895.4
p.I182I
c.546T>A
1 paper
NM_001008895.4
p.I193V
c.577A>G
1 paper
NM_001008895.4
p.L199Q
c.596T>A
2 papers
NM_001008895.4
p.G206S
c.616G>A
2 papers
NM_001008895.4
p.E207K
c.619G>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."