Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.K164fs

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.K164fs
c.490_491fs
Surrounding Variants
11 papers
NM_000041.4
p.K164Q
c.490A>C
10 papers
NM_000041.4
p.K164E
c.490A>G
1 paper
NM_000041.4
p.K164R
c.491A>G
158 papers
NM_000041.4
p.K164M
c.491A>T
1 paper
NM_000041.4
p.R163R
c.489T>C
10 papers
NM_000041.4
p.R163H
c.488G>A
12 papers
NM_000041.4
p.R163P
c.488G>C
2 papers
NM_000041.4
p.K164N
c.492G>C
2 papers
NM_000041.4
p.K164N
c.492G>T
1 paper
NM_000041.4
p.R163delFs
c.489delT
1 paper
NM_000041.4
p.R165G
c.493C>G
33 papers
NM_000041.4
p.R163C
c.487C>T
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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."