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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.S147N

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

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

Surrounding Variants

1 paper

chr11:116821616 T>A

NM_000482.4

p.T148S

c.442A>T

Apolipoprotein

Exome: n/aGenome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821615 G>A

NM_000482.4

p.T148M

c.443C>T

Apolipoprotein

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr11:116821627 G>A

NM_000482.4

p.T144I

c.431C>T

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821607 C>T

NM_000482.4

p.E151K

c.451G>A

Apolipoprotein

Exome: 0.0% (AC=15, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821631 G>A

NM_000482.4

p.R143C

c.427C>T

Apolipoprotein

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr11:116821636 T>G

NM_000482.4

p.Q141P

c.422A>C

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821598 G>A

NM_000482.4

p.R154W

c.460C>T

Apolipoprotein

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr11:116821598 G>C

NM_000482.4

p.R154G

c.460C>G

Apolipoprotein

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

2 papers

chr11:116821597 C>A

NM_000482.4

p.R154L

c.461G>T

Apolipoprotein

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=9, hom=0)19 overlapping SVs

1 paper

chr11:116821640 C>T

NM_000482.4

p.D140N

c.418G>A

Apolipoprotein

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821595 G>A

NM_000482.4

p.R155C

c.463C>T

Apolipoprotein

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=4, hom=0)19 overlapping SVs

1 paper

chr11:116821642 G>A

NM_000482.4

p.A139V

c.416C>T

Apolipoprotein

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

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