Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R154L

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.R154L
c.461G>T
Surrounding Variants
6 papers
NM_000041.4
p.R154H
c.461G>A
NM_001302688.2
p.R180H
c.539G>A
35 papers
NM_000041.4
p.R154S
c.460C>A
1 paper
NM_000041.4
p.R154fs
c.460_461fs
2 papers
NM_000041.4
p.R154R
c.462C>G
17 papers
NM_000041.4
p.R154C
c.460C>T
2 papers
NM_000041.4
p.R154R
c.462C>T
1 paper
NM_000041.4
p.R154Fs
c.460_461delinsAAAFs
2 papers
NM_000041.4
p.L155I
c.463C>A
1 paper
NM_000041.4
p.L155V
c.463C>G
5 papers
NM_000041.4
p.L155F
c.463C>T
2 papers
NM_000041.4
p.L155H
c.464T>A
6 papers
NM_000041.4
p.L155P
c.464T>C
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