Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R198C

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.R198C
c.592C>T
Surrounding Variants
5 papers
NM_000041.4
p.R198S
c.592C>A
1 paper
NM_000041.4
p.R198R
c.594C>T
2 papers
NM_000041.4
p.L199L
c.597G>A
1 paper
NM_000041.4
p.R196S
c.586C>A
1 paper
NM_000041.4
p.R196C
c.586C>T
2 papers
NM_000041.4
p.G200R
c.598G>A
1 paper
NM_000041.4
p.G200R
c.598G>C
1 paper
NM_000041.4
p.G200W
c.598G>T
2 papers
NM_000041.4
p.G200E
c.599G>A
1 paper
NM_000041.4
p.G200A
c.599G>C
1 paper
NM_000041.4
p.G200V
c.599G>T
1 paper
NM_000041.4
p.I195S
c.584T>G
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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."