Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.G203W

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.G203W
c.607G>T
Surrounding Variants
1 paper
NM_001371904.1
p.G203R
c.607G>C
1 paper
NM_001371904.1
p.G203R
c.607G>A
1 paper
NM_001371904.1
p.L198_I202delFs
c.593_606del14
2 papers
NM_001371904.1
p.R204C
c.610C>T
1 paper
NM_001371904.1
p.G201C
c.601G>T
1 paper
NM_001371904.1
p.H205fs
c.613_614fs
2 papers
NM_001371904.1
p.S200S
c.600C>T
1 paper
NM_001371904.1
p.S200delFs
c.599delC
2 papers
NM_001371904.1
p.V206A
c.617T>C
1 paper
NM_001371904.1
p.L198P
c.593T>C
3 papers
NM_001371904.1
p.P193_L198delFs
c.579_592del14
2 papers
NM_001371904.1
p.E208K
c.622G>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."