Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Y132H

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.Y132H
c.394T>C
Surrounding Variants
3 papers
NM_001371904.1
p.T133R
c.398C>G
1 paper
NM_001371904.1
p.M134I
c.402G>A
1 paper
NM_001371904.1
p.T133_M134del2
c.397_401del6
1 paper
NM_001371904.1
p.L129M
c.385C>A
2 papers
NM_001371904.1
p.Q128Fs
c.384delinsTGGGCTFs
1 paper
NM_001371904.1
p.Q127_Q128insFs
c.381_382insT
1 paper
NM_001371904.1
p.Q127*
c.379C>T
1 paper
NM_001371904.1
p.R126Q
c.377G>A
1 paper
NM_001371904.1
p.E138Q
c.412G>C
1 paper
NM_001371904.1
p.L125insFs
c.373dupT
50 papers
NM_001371904.1
p.Q139*
c.415C>T
1 paper
NM_001371904.1
p.G124G
c.372C>T
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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."