Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E114K

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
6 papers
NM_000041.4
p.E114K
c.340G>A
Surrounding Variants
2 papers
NM_000041.4
p.E114fs
c.340_341fs
1 paper
NM_000041.4
p.E114insFs
c.341_342insG
1 paper
NM_000041.4
p.K113_E114insFs
c.339_340ins5
2 papers
NM_000041.4
p.E114insFs
c.340_341insG
1 paper
NM_000041.4
p.K113insFs
c.337_338ins4
1 paper
NM_000041.4
p.K113E
c.337A>G
1 paper
NM_000041.4
p.K113fs
c.337_338fs
1 paper
NM_000041.4
p.L115V
c.343C>G
1 paper
NM_000041.4
p.L115Q
c.344T>A
1 paper
NM_000041.4
p.L115P
c.344T>C
3 papers
NM_000041.4
p.L115R
c.344T>G
1 paper
NM_000041.4
p.S112Y
c.335C>A
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