Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.G296W

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.G296W
c.886G>T
Surrounding Variants
2 papers
NM_000041.4
p.G296R
c.886G>A
2 papers
NM_000041.4
p.G296R
c.886G>C
1 paper
NM_000041.4
p.G296E
c.887G>A
1 paper
NM_000041.4
p.A295V
c.884C>T
14 papers
NM_000041.4
p.L297L
c.889C>T
4 papers
NM_000041.4
p.W294C
c.882G>C
4 papers
NM_000041.4
p.W294C
c.882G>T
3 papers
NM_001302688.2
p.L323P
c.968T>C
NM_000041.4
p.L297P
c.890T>C
18 papers
NM_000041.4
p.V298V
c.894G>T
1 paper
NM_000041.4
p.Q293K
c.877C>A
1 paper
NM_000041.4
p.E299K
c.895G>A
1 paper
NM_000041.4
p.E299Q
c.895G>C
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