Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q97_E98Fs

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.Q97_E98Fs
c.290_293delinsGGFs
Surrounding Variants
3 papers
NM_001371904.1
p.E98*
c.292G>T
2 papers
NM_001371904.1
p.E98D
c.294G>T
1 paper
NM_001371904.1
p.Q97insFs
c.290_291insAG
3 papers
NM_001371904.1
p.E98D
c.294G>C
2 papers
NM_001371904.1
p.E98K
c.292G>A
1 paper
NM_001371904.1
p.Q97_E98delins
c.289_294delinsTTT
6 papers
NM_001371904.1
p.E99K
c.295G>A
1 paper
NM_001371904.1
p.E98_E99delins
c.294_295delinsCA
1 paper
NM_001371904.1
p.R94_E98del5
c.280_293del15
39 papers
NM_001371904.1
p.Q97*
c.289C>T
1 paper
NM_001371904.1
p.Q97insFs
c.289_290insAG
1 paper
NM_001371904.1
p.Q97insFs
c.289_290insGA
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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."