Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R176C

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
234 papers
NM_000041.4
p.R176C
c.526C>T
NM_001302688.2
p.R202C
c.604C>T
Surrounding Variants
1 paper
NM_000041.4
p.R176S
c.526C>A
1 paper
NM_000041.4
p.R176G
c.526C>G
7 papers
NM_000041.4
p.R176P
c.527G>C
1 paper
NM_000041.4
p.L177P
c.530T>C
1 paper
NM_000041.4
p.Q174R
c.521A>G
2 papers
NM_000041.4
p.Q174*
c.520C>T
1 paper
NM_000041.4
p.A178T
c.532G>A
1 paper
NM_000041.4
p.L173L
c.519G>T
11 papers
NM_000041.4
p.L173P
c.518T>C
2 papers
NM_000041.4
p.L173L
c.517C>T
1 paper
NM_000041.4
p.V179M
c.535G>A
1 paper
NM_000041.4
p.D172E
c.516C>A
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