Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.R343P

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.R343P
c.1028G>C
Surrounding Variants
8 papers
NM_001371904.1
p.R343C
c.1027C>T
1 paper
NM_001371904.1
p.R343G
c.1027C>G
1 paper
NM_001371904.1
p.R343S
c.1027C>A
2 papers
NM_001371904.1
p.Q341H
c.1023G>T
2 papers
NM_001371904.1
p.Q341H
c.1023G>C
2 papers
NM_001371904.1
p.D346H
c.1036G>C
1 paper
NM_001371904.1
p.L340L
c.1020G>C
2 papers
NM_001371904.1
p.D346N
c.1036G>A
1 paper
NM_001371904.1
p.L340L
c.1020G>A
1 paper
NM_001371904.1
p.D346V
c.1037A>T
1 paper
NM_001371904.1
p.W348*
c.1043G>A
1 paper
NM_001371904.1
p.W348*
c.1044G>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."