Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R163delFs

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_001302688.2
p.R163delFs
c.489delC
Surrounding Variants
6 papers
NM_000041.4
p.R137H
c.410G>A
1 paper
NM_000041.4
p.E139_G145ins2
c.415_435dup21
1 paper
NM_000041.4
p.R137G
c.409C>G
4 papers
NM_000041.4
p.R137C
c.409C>T
1 paper
NM_000041.4
p.R137fs
c.409_410fs
1 paper
NM_000041.4
p.R137insFs
c.409_410ins10
2 papers
NM_000041.4
p.G138S
c.412G>A
1 paper
NM_000041.4
p.G138C
c.412G>T
2 papers
NM_001302688.2
p.Y162C
c.485A>G
NM_000041.4
p.Y136C
c.407A>G
1 paper
NM_000041.4
p.G138G
c.414C>G
2 papers
NM_000041.4
p.Y136H
c.406T>C
3 papers
NM_000041.4
p.E139K
c.415G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."