Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.M239I

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
4 papers
NM_000041.4
p.M239I
c.717G>T
Surrounding Variants
6 papers
NM_000041.4
p.M239I
c.717G>A
4 papers
NM_000041.4
p.M239I
c.717G>C
1 paper
NM_000041.4
p.G240S
c.718G>A
2 papers
NM_000041.4
p.M239V
c.715A>G
1 paper
NM_000041.4
p.S241R
c.721A>C
4 papers
NM_000041.4
p.E238V
c.713A>T
1 paper
NM_000041.4
p.S241C
c.721A>T
2 papers
NM_000041.4
p.E238K
c.712G>A
1 paper
NM_000041.4
p.E238Q
c.712G>C
1 paper
NM_000041.4
p.E238*
c.712G>T
1 paper
NM_000041.4
p.S241delFs
c.723delC
1 paper
NM_000041.4
p.S241R
c.723C>A
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