Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R211L

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.R211L
c.632G>T
Surrounding Variants
1 paper
NM_001371904.1
p.R211G
c.631C>G
1 paper
NM_001371904.1
p.H210Q
c.630C>G
1 paper
NM_001371904.1
p.H210Q
c.630C>A
1 paper
NM_001371904.1
p.H210R
c.629A>G
3 papers
NM_001371904.1
p.V213M
c.637G>A
1 paper
NM_001371904.1
p.E208delFs
c.624delC
1 paper
NM_001371904.1
p.H205_E208delFs
c.614_624del11
2 papers
NM_001371904.1
p.A214P
c.640G>C
1 paper
NM_001371904.1
p.A214D
c.641C>A
2 papers
NM_001371904.1
p.E208K
c.622G>A
5 papers
NM_001371904.1
p.P215L
c.644C>T
2 papers
NM_001371904.1
p.V206A
c.617T>C
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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."