Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.G191C

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.G191C
c.571G>T
Surrounding Variants
7 papers
NM_000041.4
p.G191A
c.572G>C
1 paper
NM_000041.4
p.L192del1
c.574_575delCTC
1 paper
NM_000041.4
p.R190L
c.569G>T
1 paper
NM_000041.4
p.R190S
c.568C>A
1 paper
NM_000041.4
p.R190C
c.568C>T
1 paper
NM_000041.4
p.L192P
c.575T>C
1 paper
NM_000041.4
p.S193insFs
c.577_578ins4
1 paper
NM_000041.4
p.S193R
c.577A>C
5 papers
NM_000041.4
p.E189K
c.565G>A
1 paper
NM_000041.4
p.A188A
c.564C>T
1 paper
NM_000041.4
p.S193N
c.578G>A
1 paper
NM_000041.4
p.S193R
c.579C>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."