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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.N70S

APOA4

219 papers

RefSeq Summary

Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue pr...

Pfam Domains

Apolipoproteinaa 61–250UCSCApolipoprotein A1/A4/E domain

Apolipoproteinaa 244–393UCSCApolipoprotein A1/A4/E domain

Gene Aliases

HGNC Name

apolipoprotein A4

HGNC Previous Name

apolipoprotein A-IV

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:116821849 T>C

NM_000482.4

p.N70S

c.209A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821852 A>G

NM_000482.4

p.V69A

c.206T>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821852 A>T

NM_000482.4

p.V69E

c.206T>A

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821855 T>A

NM_000482.4

p.E68V

c.203A>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821841 C>A

NM_000482.4

p.A73S

c.217G>T

Apolipoprotein

Exome: 0.0% (AC=14, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821859 C>T

NM_000482.4

p.G67R

c.199G>A

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821838 C>T

NM_000482.4

p.G74S

c.220G>A

Apolipoprotein

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=35, hom=0)19 overlapping SVs

1 paper

chr11:116821861 A>C

NM_000482.4

p.L66R

c.197T>G

Apolipoprotein

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr11:116821836 A>G

NM_000482.4

p.G74G

c.222T>C

Apolipoprotein

Exome: 3.5% (AC=50935, hom=1002)Genome: 2.7% (AC=4065, hom=73)19 overlapping SVs

3 papers

chr11:116821862 G>C

NM_000482.4

p.L66V

c.196C>G

Apolipoprotein

Exome: 0.0% (AC=3, hom=0)Genome: n/a19 overlapping SVs

2 papers

chr11:116821827 C>A

NM_000482.4

p.Q77H

c.231G>T

Apolipoprotein

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

2 papers

chr11:116821827 C>G

NM_000482.4

p.Q77H

c.231G>C

Apolipoprotein

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821825 T>A

NM_000482.4

p.K78M

c.233A>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

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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."