Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R152R

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.R152R
c.456G>A
Surrounding Variants
1 paper
NM_000041.4
p.V153_L155del0
c.457_465del9
25 papers
NM_000041.4
p.R152Q
c.455G>A
6 papers
NM_000041.4
p.V153M
c.457G>A
1 paper
NM_000041.4
p.R152P
c.455G>C
2 papers
NM_001302688.2
p.R178W
c.532C>T
NM_000041.4
p.R152W
c.454C>T
35 papers
NM_000041.4
p.R154S
c.460C>A
1 paper
NM_000041.4
p.R154fs
c.460_461fs
17 papers
NM_000041.4
p.R154C
c.460C>T
1 paper
NM_000041.4
p.R154Fs
c.460_461delinsAAAFs
1 paper
NM_000041.4
p.L151P
c.452T>C
1 paper
NM_000041.4
p.L151M
c.451C>A
1 paper
NM_000041.4
p.L151V
c.451C>G
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