Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.E102*

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.E102*
c.304G>T
Surrounding Variants
2 papers
NM_001371904.1
p.E102K
c.304G>A
1 paper
NM_001371904.1
p.E102_V103insFs
c.306_307insA
1 paper
NM_001371904.1
p.V103M
c.307G>A
1 paper
NM_001371904.1
p.E102_V103del1
c.305_307delCCT
2 papers
NM_001371904.1
p.E99del1
c.295_296delCTC
2 papers
NM_001371904.1
p.A105S
c.313G>T
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
2 papers
NM_001371904.1
p.E98D
c.294G>T
3 papers
NM_001371904.1
p.E98D
c.294G>C
1 paper
NM_001371904.1
p.Q97_E98delins
c.289_294delinsTTT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."