Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.D172Y

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.D172Y
c.514G>T
Surrounding Variants
3 papers
NM_000041.4
p.D172N
c.514G>A
1 paper
NM_000041.4
p.D172E
c.516C>A
1 paper
NM_000041.4
p.D172E
c.516C>G
4 papers
NM_000041.4
p.D172D
c.516C>T
2 papers
NM_000041.4
p.L173L
c.517C>T
2 papers
NM_000041.4
p.D171H
c.511G>C
1 paper
NM_000041.4
p.D171Y
c.511G>T
11 papers
NM_000041.4
p.L173P
c.518T>C
7 papers
NM_000041.4
p.A170D
c.509C>A
4 papers
NM_000041.4
p.A170V
c.509C>T
1 paper
NM_000041.4
p.L173L
c.519G>T
2 papers
NM_000041.4
p.Q174*
c.520C>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."