Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A208P

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_001302688.2
p.A208P
c.622G>C
Surrounding Variants
1 paper
NM_000041.4
p.A182insFs
c.544_545ins5
1 paper
NM_001302688.2
p.A208S
c.622G>T
1 paper
NM_000041.4
p.A182A
c.546C>G
3 papers
NM_000041.4
p.G183R
c.547G>A
3 papers
NM_000041.4
p.G183R
c.547G>C
1 paper
NM_000041.4
p.G183A
c.548G>C
2 papers
NM_000041.4
p.G183V
c.548G>T
3 papers
NM_000041.4
p.Y180F
c.539A>T
2 papers
NM_000041.4
p.A184_G187del4
c.550_560del12
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.A184D
c.551C>A
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