Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.P102P

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
2 papers
NM_000041.4
p.P102P
c.306G>A
Surrounding Variants
2 papers
NM_000041.4
p.P102Q
c.305C>A
16 papers
NM_000041.4
p.P102R
c.305C>G
3 papers
NM_000041.4
p.P102L
c.305C>T
2 papers
NM_000041.4
p.P102T
c.304C>A
1 paper
NM_000041.4
p.P102S
c.304C>T
1 paper
NM_000041.4
p.V103G
c.308T>G
1 paper
NM_000041.4
p.T101I
c.302C>T
1 paper
NM_000041.4
p.A104A
c.312G>A
1 paper
NM_000041.4
p.A104A
c.312G>C
1 paper
NM_000041.4
p.L100L
c.300G>T
1 paper
NM_000041.4
p.Q99Q
c.297A>G
1 paper
NM_000041.4
p.E105D
c.315G>C
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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."