Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.V254G

APOE

2,396 papers

RefSeq Summary

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich li...

Pfam Domains

Apolipoproteinaa 81–288UCSCApolipoprotein A1/A4/E domain
Apolipoproteinaa 81–288UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein E

HGNC Previous Symbol

AD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000041.4
p.V254G
c.761T>G
Surrounding Variants
19 papers
NM_000041.4
p.V254E
c.761T>A
1 paper
NM_000041.4
p.A255T
c.763G>A
1 paper
NM_000041.4
p.A255G
c.764C>G
1 paper
NM_000041.4
p.Q253*
c.757C>T
1 paper
NM_000041.4
p.A255A
c.765G>C
5 papers
NM_000041.4
p.E256K
c.766G>A
1 paper
NM_000041.4
p.E256V
c.767A>T
4 papers
NM_000041.4
p.E252K
c.754G>A
2 papers
NM_000041.4
p.R258H
c.773G>A
2 papers
NM_000041.4
p.A259P
c.775G>C
3 papers
NM_000041.4
p.E249K
c.745G>A
2 papers
NM_000041.4
p.E249Q
c.745G>C
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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."