Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q222H

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
2 papers
NM_000041.4
p.Q222H
c.666G>T
Surrounding Variants
2 papers
NM_000041.4
p.Q222H
c.666G>C
1 paper
NM_000041.4
p.E223K
c.667G>A
1 paper
NM_000041.4
p.E223Q
c.667G>C
1 paper
NM_000041.4
p.E223A
c.668A>C
6 papers
NM_000041.4
p.Q222K
c.664C>A
1 paper
NM_000041.4
p.L221L
c.663A>T
2 papers
NM_000041.4
p.R224G
c.670C>G
1 paper
NM_000041.4
p.L221P
c.662T>C
1 paper
NM_000041.4
p.L221R
c.662T>G
5 papers
NM_000041.4
p.R224Q
c.671G>A
2 papers
NM_000041.4
p.R224P
c.671G>C
1 paper
NM_000041.4
p.R224L
c.671G>T
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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."