Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.V301V

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.V301V
c.903G>T
Surrounding Variants
1 paper
NM_000041.4
p.K300N
c.900G>C
1 paper
NM_000041.4
p.K300N
c.900G>T
1 paper
NM_000041.4
p.A303P
c.907G>C
1 paper
NM_000041.4
p.K300E
c.898A>G
2 papers
NM_000041.4
p.E299G
c.896A>G
1 paper
NM_000041.4
p.A304D
c.911C>A
1 paper
NM_000041.4
p.E299K
c.895G>A
1 paper
NM_000041.4
p.E299Q
c.895G>C
18 papers
NM_000041.4
p.V298V
c.894G>T
5 papers
NM_000041.4
p.V305M
c.913G>A
1 paper
NM_000041.4
p.V305G
c.914T>G
1 paper
NM_000041.4
p.G306delFs
c.916delG
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