Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Y30H

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
1 paper
NM_001371904.1
p.Y30H
c.88T>C
Surrounding Variants
1 paper
NM_001371904.1
p.Y30F
c.89A>T
1 paper
NM_001371904.1
p.D29Fs
c.86delinsCCFs
1 paper
NM_001371904.1
p.D29N
c.85G>A
2 papers
NM_001371904.1
p.W28C
c.84G>T
2 papers
NM_001371904.1
p.W28C
c.84G>C
1 paper
NM_001371904.1
p.G26delFs
c.77delC
2 papers
NM_001371904.1
p.Q33L
c.98A>T
5 papers
NM_001371904.1
p.G26V
c.77G>T
1 paper
NM_001371904.1
p.K25_G26insFs
c.73_76dup4
1 paper
NM_001371904.1
p.G26A
c.77G>C
1 paper
NM_001371904.1
p.S32_Q33delFs
c.94_98del5
1 paper
NM_001371904.1
p.G26fs
c.76_77fs
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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."