Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.L167del1

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
92 papers
NM_000041.4
p.L167del1
c.499_500delCTC
Surrounding Variants
1 paper
NM_000041.4
p.R165R
c.495G>T
1 paper
NM_000041.4
p.L166V
c.496C>G
2 papers
NM_000041.4
p.R165Q
c.494G>A
9 papers
NM_000041.4
p.R165P
c.494G>C
1 paper
NM_000041.4
p.R165G
c.493C>G
3 papers
NM_000041.4
p.R165W
c.493C>T
2 papers
NM_000041.4
p.L166H
c.497T>A
5 papers
NM_000041.4
p.L166P
c.497T>C
3 papers
NM_000041.4
p.L166R
c.497T>G
1 paper
NM_000041.4
p.L166insFs
c.497_498insA
2 papers
NM_000041.4
p.K164N
c.492G>C
2 papers
NM_000041.4
p.K164N
c.492G>T
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