Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.P313L

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.P313L
c.938C>T
Surrounding Variants
11 papers
NM_000041.4
p.S314R
c.940A>C
11 papers
NM_000041.4
p.S314R
c.942C>A
11 papers
NM_000041.4
p.S314R
c.942C>G
1 paper
NM_000041.4
p.D315_N316insC
c.943_947ins3
1 paper
NM_000041.4
p.P311H
c.932C>A
1 paper
NM_000041.4
p.H317Q
c.951C>A
1 paper
NM_000041.4
p.S308G
c.922A>G
1 paper
NM_000041.4
p.T307T
c.921C>G
1 paper
NM_000041.4
p.T307T
c.921C>T
1 paper
NM_000041.4
p.T307insFs
c.920_921ins4
2 papers
NM_000041.4
p.T307I
c.920C>T
1 paper
NM_000041.4
p.V305V
c.915G>C
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