Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.K705R

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
2 papers
NM_001008895.4
p.K705R
c.2114A>G
Surrounding Variants
1 paper
NM_001008895.4
p.K705N
c.2115G>C
1 paper
NM_001008895.4
p.K705N
c.2115G>T
1 paper
NM_001008895.4
p.M704I
c.2112G>A
1 paper
NM_001008895.4
p.M704I
c.2112G>C
1 paper
NM_001008895.4
p.M704I
c.2112G>T
1 paper
NM_001008895.4
p.T709P
c.2125A>C
1 paper
NM_001008895.4
p.L710I
c.2128C>A
1 paper
NM_001008895.4
p.V716_S717insT
c.2146_2150ins3
1 paper
NM_001008895.4
p.Q690*
c.2068C>T
1 paper
NM_001278513.3
p.T577_V578Splc
c.1732-2A>G
1 paper
NM_001008895.4
p.N753H
c.2257A>C
2 papers
NM_001008895.4
p.V758M
c.2272G>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."