Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E186K

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.E186K
c.556G>A
Surrounding Variants
1 paper
NM_000041.4
p.E186Q
c.556G>C
3 papers
NM_000041.4
p.R185R
c.555C>T
1 paper
NM_000041.4
p.R185H
c.554G>A
1 paper
NM_000041.4
p.E186_G187insFs
c.558_559insC
2 papers
NM_000041.4
p.G187A
c.560G>C
1 paper
NM_000041.4
p.G187insFs
c.560_561ins7
1 paper
NM_000041.4
p.G187V
c.560G>T
1 paper
NM_000041.4
p.A184D
c.551C>A
2 papers
NM_000041.4
p.A184V
c.551C>T
1 paper
NM_000041.4
p.A184fs
c.550_551fs
1 paper
NM_000041.4
p.A184S
c.550G>T
1 paper
NM_000041.4
p.A188V
c.563C>T
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