Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.A142V

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.A142V
c.425C>T
Surrounding Variants
1 paper
NM_000041.4
p.M143_S147del5
c.427_440del15
1 paper
NM_000041.4
p.A142S
c.424G>T
4 papers
NM_000041.4
p.A142_L144del3
c.424_431del9
1 paper
NM_000041.4
p.Q141R
c.422A>G
1 paper
NM_000041.4
p.M143T
c.428T>C
2 papers
NM_000041.4
p.Q141K
c.421C>A
1 paper
NM_000041.4
p.Q141*
c.421C>T
2 papers
NM_000041.4
p.L144del1
c.430_431delCTC
1 paper
NM_000041.4
p.L144I
c.430C>A
1 paper
NM_000041.4
p.L144V
c.430C>G
4 papers
NM_000041.4
p.L144F
c.430C>T
1 paper
NM_000041.4
p.V140V
c.420G>C
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."