Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R160H

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.R160H
c.479G>A
Surrounding Variants
7 papers
NM_000041.4
p.R160L
c.479G>T
2 papers
NM_000041.4
p.R160S
c.478C>A
2 papers
NM_000041.4
p.R160G
c.478C>G
10 papers
NM_000041.4
p.R160C
c.478C>T
1 paper
NM_000041.4
p.R160R
c.480C>T
1 paper
NM_000041.4
p.K161_R163del3
c.481_488del9
1 paper
NM_000041.4
p.K161_R165del5
c.481_494del15
1 paper
NM_000041.4
p.K161R
c.482A>G
1 paper
NM_000041.4
p.L159Q
c.476T>A
4 papers
NM_000041.4
p.L159P
c.476T>C
NM_001302688.2
p.L185P
c.554T>C
6 papers
NM_000041.4
p.L159R
c.476T>G
1 paper
NM_000041.4
p.R160_K164del5
c.478_491del15
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