Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R79T

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.R79T
c.236G>C
Surrounding Variants
1 paper
NM_000041.4
p.R79Splc
c.236+2T>C
1 paper
NM_000041.4
p.L78Q
c.233T>A
3 papers
NM_000041.4
p.L78P
c.233T>C
1 paper
NM_000041.4
p.L78R
c.233T>G
1 paper
NM_000041.4
p.L78V
c.232C>G
1 paper
NM_000041.4
p.E77K
c.229G>A
5 papers
NM_000041.4
p.T75I
c.224C>T
2 papers
NM_000041.4
p.V74A
c.221T>C
1 paper
NM_000041.4
p.T75del1
c.223_224delACC
114 papers
NM_000041.4
p.Q73H
c.219G>T
1 paper
NM_000041.4
p.Q73P
c.218A>C
1 paper
NM_000041.4
p.Q73R
c.218A>G
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