Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.M92I

APOA5

641 papers

RefSeq Summary

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of h...

Pfam Domains

Apolipoproteinaa 59–262UCSCApolipoprotein A1/A4/E domain
Apolipoproteinaa 265–358UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein A5

HGNC Alias Symbols

RAP3; APOA-V

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001371904.1
p.M92I
c.276G>T
Surrounding Variants
2 papers
NM_001371904.1
p.M92fs
c.274_275fs
2 papers
NM_001371904.1
p.R93Q
c.278G>A
1 paper
NM_001371904.1
p.V90delFs
c.270delC
1 paper
NM_001371904.1
p.G91D
c.272G>A
4 papers
NM_001371904.1
p.R94W
c.280C>T
1 paper
NM_001371904.1
p.R94L
c.281G>T
6 papers
NM_001371904.1
p.G91R
c.271G>C
6 papers
NM_001371904.1
p.Q95*
c.283C>T
2 papers
NM_001371904.1
p.Q95insFs
c.283_284insG
2 papers
NM_001371904.1
p.Q95insFs
c.283_284insAG
1 paper
NM_001371904.1
p.Q95insFs
c.283_284insGA
1 paper
NM_001371904.1
p.Q95K
c.283C>A
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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."