Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.D245G

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.D245G
c.734A>G
Surrounding Variants
1 paper
NM_001302688.2
p.D271A
c.812A>C
2 papers
NM_000041.4
p.D245E
c.735C>A
2 papers
NM_000041.4
p.D245E
c.735C>G
1 paper
NM_000041.4
p.D245N
c.733G>A
1 paper
NM_000041.4
p.D245Y
c.733G>T
1 paper
NM_000041.4
p.R246S
c.736C>A
11 papers
NM_000041.4
p.R246C
c.736C>T
1 paper
NM_000041.4
p.R246R
c.738C>T
1 paper
NM_000041.4
p.T243T
c.729C>T
1 paper
NM_000041.4
p.T243_R244insA
c.727_731ins3
4 papers
NM_000041.4
p.D248Y
c.742G>T
5 papers
NM_000041.4
p.R242Q
c.725G>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."