Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E288A

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.E288A
c.863A>C
Surrounding Variants
3 papers
NM_000041.4
p.E288K
c.862G>A
1 paper
NM_000041.4
p.V287V
c.861G>C
1 paper
NM_000041.4
p.D289A
c.866A>C
18 papers
NM_000041.4
p.V287E
c.860T>A
1 paper
NM_000041.4
p.V287A
c.860T>C
3 papers
NM_000041.4
p.V287M
c.859G>A
1 paper
NM_000041.4
p.V287fs
c.859_860fs
5 papers
NM_000041.4
p.M290T
c.869T>C
1 paper
NM_000041.4
p.L286P
c.857T>C
1 paper
NM_000041.4
p.L286R
c.857T>G
1 paper
NM_000041.4
p.M290_R292delFs
c.870_874del5
8 papers
NM_000041.4
p.L286V
c.856C>G
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