Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.E204D

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.E204D
c.612A>C
Surrounding Variants
2 papers
NM_000041.4
p.Q205E
c.613C>G
1 paper
NM_000041.4
p.Q205*
c.613C>T
2 papers
NM_000041.4
p.Q205R
c.614A>G
2 papers
NM_001302688.2
p.E230K
c.688G>A
NM_000041.4
p.E204K
c.610G>A
2 papers
NM_000041.4
p.E204*
c.610G>T
2 papers
NM_000041.4
p.G206S
c.616G>A
1 paper
NM_000041.4
p.G206D
c.617G>A
3 papers
NM_000041.4
p.G206A
c.617G>C
3 papers
NM_000041.4
p.G206V
c.617G>T
1 paper
NM_000041.4
p.R207S
c.619C>A
2 papers
NM_000041.4
p.R207C
c.619C>T
1 paper
NM_000041.4
p.L202_V203insT
c.604_608ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."