Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E31E

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.E31E
c.93G>A
Surrounding Variants
1 paper
NM_000041.4
p.E31D
c.93G>T
1 paper
NM_000041.4
p.E31G
c.92A>G
1 paper
NM_000041.4
p.L32M
c.94C>A
16 papers
NM_000041.4
p.E31K
c.91G>A
1 paper
NM_000041.4
p.E31*
c.91G>T
1 paper
NM_000041.4
p.L32P
c.95T>C
1 paper
NM_000041.4
p.P30P
c.90C>A
1 paper
NM_000041.4
p.L32L
c.96G>A
1 paper
NM_000041.4
p.P30_E31insFs
c.90_91ins4
4 papers
NM_000041.4
p.R33C
c.97C>T
1 paper
NM_000041.4
p.P30L
c.89C>T
1 paper
NM_000041.4
p.P30S
c.88C>T
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