Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.W282C

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.W282C
c.846G>T
Surrounding Variants
1 paper
NM_000041.4
p.W282C
c.846G>C
2 papers
NM_000041.4
p.W282*
c.845G>A
1 paper
NM_001302688.2
p.W308G
c.922T>G
1 paper
NM_000041.4
p.S281T
c.842G>C
1 paper
NM_000041.4
p.E284G
c.851A>G
2 papers
NM_000041.4
p.K280Q
c.838A>C
1 paper
NM_001302688.2
p.P311H
c.932C>A
8 papers
NM_000041.4
p.L286V
c.856C>G
1 paper
NM_000041.4
p.L279P
c.836T>C
1 paper
NM_000041.4
p.L286P
c.857T>C
1 paper
NM_000041.4
p.L286R
c.857T>G
3 papers
NM_000041.4
p.V287M
c.859G>A
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