Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R233C

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.R233C
c.697C>T
Surrounding Variants
1 paper
NM_000041.4
p.R233G
c.697C>G
1 paper
NM_000041.4
p.L232P
c.695T>C
1 paper
NM_000041.4
p.R235delFs
c.703_704delCG
1 paper
NM_000041.4
p.A234T
c.700G>A
1 paper
NM_000041.4
p.A234E
c.701C>A
2 papers
NM_000041.4
p.A234V
c.701C>T
1 paper
NM_000041.4
p.R235fs
c.703_704fs
1 paper
NM_000041.4
p.R231G
c.691C>G
5 papers
NM_000041.4
p.R235W
c.703C>T
2 papers
NM_000041.4
p.R235Q
c.704G>A
10 papers
NM_000041.4
p.E230K
c.688G>A
2 papers
NM_001302688.2
p.E263K
c.787G>A
NM_000041.4
p.E237K
c.709G>A
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