Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R207S

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.R207S
c.619C>A
Surrounding Variants
2 papers
NM_000041.4
p.R207C
c.619C>T
1 paper
NM_000041.4
p.R207H
c.620G>A
1 paper
NM_000041.4
p.R207P
c.620G>C
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
2 papers
NM_000041.4
p.G206S
c.616G>A
2 papers
NM_000041.4
p.V208L
c.622G>C
2 papers
NM_000041.4
p.V208L
c.622G>T
1 paper
NM_000041.4
p.V208A
c.623T>C
2 papers
NM_000041.4
p.Q205R
c.614A>G
1 paper
NM_000041.4
p.R209_A210insG
c.625_629ins3
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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."