Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.Q17P

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.Q17P
c.50A>C
Surrounding Variants
1 paper
NM_000041.4
p.Q17R
c.50A>G
1 paper
NM_000041.4
p.Q17K
c.49C>A
2 papers
NM_000041.4
p.Q17*
c.49C>T
1 paper
NM_000041.4
p.Q17_A18insFs
c.51_52ins31
2 papers
NM_000041.4
p.Q17H
c.51G>T
2 papers
NM_000041.4
p.C16C
c.48C>T
10 papers
NM_000041.4
p.A18T
c.52G>A
1 paper
NM_000041.4
p.A18P
c.52G>C
1 paper
NM_000041.4
p.A18G
c.53C>G
2 papers
NM_000041.4
p.C16Y
c.47G>A
1 paper
NM_000041.4
p.Q17delFs
c.49delC
2 papers
NM_000041.4
p.K19T
c.56A>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."