Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.S94W

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.S94W
c.281C>G
Surrounding Variants
1 paper
NM_000041.4
p.S94L
c.281C>T
1 paper
NM_000041.4
p.K93N
c.279A>C
1 paper
NM_000041.4
p.K93N
c.279A>T
1 paper
NM_000041.4
p.K93T
c.278A>C
2 papers
NM_000041.4
p.K93Q
c.277A>C
1 paper
NM_000041.4
p.K93E
c.277A>G
1 paper
NM_000041.4
p.Y92*
c.276C>A
1 paper
NM_000041.4
p.Y92C
c.275A>G
1 paper
NM_001302688.2
p.L122P
c.365T>C
1 paper
NM_000041.4
p.L96L
c.288G>A
1 paper
NM_000041.4
p.L96L
c.288G>C
1 paper
NM_000041.4
p.L96L
c.288G>T
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