Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.L270Q

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.L270Q
c.809T>A
Surrounding Variants
1 paper
NM_000041.4
p.Q271delFs
c.811delC
5 papers
NM_000041.4
p.R269R
c.807C>T
1 paper
NM_000041.4
p.Q271P
c.812A>C
8 papers
NM_000041.4
p.R269H
c.806G>A
24 papers
NM_000041.4
p.R269G
c.805C>G
1 paper
NM_000041.4
p.R269C
c.805C>T
1 paper
NM_000041.4
p.I268M
c.804A>G
1 paper
NM_000041.4
p.I268V
c.802A>G
1 paper
NM_000041.4
p.Q267Q
c.801G>A
2 papers
NM_000041.4
p.E273*
c.817G>T
1 paper
NM_000041.4
p.E273delFs
c.818delA
2 papers
NM_000041.4
p.E273A
c.818A>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."