Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.G218R

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.G218R
c.652G>C
Surrounding Variants
3 papers
NM_000041.4
p.G218S
c.652G>A
2 papers
NM_000041.4
p.G218C
c.652G>T
4 papers
NM_000041.4
p.A217A
c.651C>T
2 papers
NM_000041.4
p.G218V
c.653G>T
1 paper
NM_000041.4
p.A217V
c.650C>T
2 papers
NM_000041.4
p.Q219E
c.655C>G
1 paper
NM_000041.4
p.P220S
c.658C>T
3 papers
NM_000041.4
p.P220L
c.659C>T
1 paper
NM_000041.4
p.P220delFs
c.660delG
6 papers
NM_000041.4
p.S215C
c.644C>G
4 papers
NM_000041.4
p.S215F
c.644C>T
1 paper
NM_000041.4
p.L221P
c.662T>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."