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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

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

1–12 of 365 variants

12 papers

chr11:116821618 C>T

NM_000482.4

p.S147N

c.440G>A

Apolipoprotein

Exome: 84.9% (AC=1237727, hom=528668)Genome: 84.1% (AC=128028, hom=54195)19 overlapping SVs

11 papers

chr11:116820918 C>A

NM_000482.4

p.Q380H

c.1140G>T

Apolipoprotein

Exome: 7.5% (AC=109875, hom=4646)Genome: 5.2% (AC=7904, hom=306)19 overlapping SVs

11 papers

chr11:116820918 C>G

NM_000482.4

p.Q380H

c.1140G>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

7 papers

chr11:116821577 C>A

NM_000482.4

p.A161S

c.481G>T

Apolipoprotein

Exome: 1.0% (AC=14020, hom=83)Genome: 0.7% (AC=1065, hom=6)19 overlapping SVs

6 papers

chr11:116823155 C>T

NM_000482.4

p.V13M

c.37G>A

Exome: 1.3% (AC=19733, hom=166)Genome: 1.0% (AC=1547, hom=13)18 overlapping SVs

5 papers

chr11:116820959 T>A

NM_000482.4

p.T367S

c.1099A>T

Apolipoprotein

Exome: 18.0% (AC=262873, hom=25108)Genome: 15.7% (AC=23881, hom=2071)19 overlapping SVs

5 papers

chr11:116820958 G>C

NM_000482.4

p.T367S

c.1100C>G

Apolipoprotein

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

4 papers

chr11:116822747 C>T

NM_000482.4

p.V30M

c.88G>A

exact variant not in gnomAD19 overlapping SVs

4 papers

chr11:116821711 T>A

NM_000482.4

p.H116L

c.347A>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

4 papers

chr11:116821677 G>T

NM_000482.4

p.N127K

c.381C>A

Apolipoprotein

Exome: 0.3% (AC=4139, hom=13)Genome: 0.2% (AC=314, hom=0)19 overlapping SVs

4 papers

chr11:116821576 G>A

NM_000482.4

p.A161V

c.482C>T

Apolipoprotein

Exome: 0.0% (AC=13, hom=0)Genome: n/a19 overlapping SVs

4 papers

chr11:116821505 C>A

NM_000482.4

p.E185*

c.553G>T

Apolipoprotein

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