Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.V134A

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.V134A
c.401T>C
Surrounding Variants
5 papers
NM_000041.4
p.V134V
c.402G>A
1 paper
NM_000041.4
p.V134V
c.402G>C
1 paper
NM_000041.4
p.Q135insFs
c.403_404ins5
1 paper
NM_000041.4
p.Q135R
c.404A>G
1 paper
NM_000041.4
p.L133Q
c.398T>A
1 paper
NM_000041.4
p.L133R
c.398T>G
1 paper
NM_000041.4
p.L133V
c.397C>G
1 paper
NM_000041.4
p.L133L
c.397C>T
1 paper
NM_000041.4
p.Q135Q
c.405G>A
1 paper
NM_000041.4
p.Q135H
c.405G>C
1 paper
NM_000041.4
p.L133_V134del2
c.397_401del6
2 papers
NM_000041.4
p.Y136H
c.406T>C
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