Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q139*

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
50 papers
NM_001371904.1
p.Q139*
c.415C>T
Surrounding Variants
1 paper
NM_001371904.1
p.Q139H
c.417G>T
1 paper
NM_001371904.1
p.E138Q
c.412G>C
1 paper
NM_001371904.1
p.V140M
c.418G>A
1 paper
NM_001371904.1
p.A141S
c.421G>T
1 paper
NM_001371904.1
p.T133_M134del2
c.397_401del6
1 paper
NM_001371904.1
p.R143C
c.427C>T
6 papers
NM_001371904.1
p.R143fs
c.427_428fs
1 paper
NM_001371904.1
p.M134I
c.402G>A
8 papers
NM_001371904.1
p.R143delFs
c.427delG
5 papers
NM_001371904.1
p.R143fs
c.427_428fs
1 paper
NM_001371904.1
p.E138_R143delFs
c.413_429del17
2 papers
NM_001371904.1
p.T133_R143del11
c.397_428del33
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