Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Y136H

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.Y136H
c.406T>C
Surrounding Variants
2 papers
NM_001302688.2
p.Y162C
c.485A>G
NM_000041.4
p.Y136C
c.407A>G
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.Q135R
c.404A>G
1 paper
NM_000041.4
p.R137insFs
c.409_410ins10
1 paper
NM_000041.4
p.Q135insFs
c.403_404ins5
1 paper
NM_000041.4
p.R137G
c.409C>G
4 papers
NM_000041.4
p.R137C
c.409C>T
1 paper
NM_000041.4
p.R137fs
c.409_410fs
6 papers
NM_000041.4
p.R137H
c.410G>A
5 papers
NM_000041.4
p.V134V
c.402G>A
1 paper
NM_000041.4
p.V134V
c.402G>C
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