Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.F48L

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.F48L
c.142T>C
Surrounding Variants
1 paper
NM_001008895.4
p.F48L
c.144C>A
1 paper
NM_001008895.4
p.F48L
c.144C>G
1 paper
NM_001008895.4
p.R49L
c.146G>T
1 paper
NM_001008895.4
p.V44I
c.130G>A
1 paper
NM_001008895.4
p.K41N
c.123G>C
1 paper
NM_001008895.4
p.K41N
c.123G>T
1 paper
NM_001008895.4
p.G38V
c.113G>T
2 papers
NM_001008895.4
p.K33R
c.98A>G
1 paper
NM_001008895.4
p.A32V
c.95C>T
1 paper
NM_001008895.4
p.L27P
c.80T>C
1 paper
NM_001008895.4
p.A26T
c.76G>A
1 paper
NM_001008895.4
p.N19S
c.56A>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."