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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.Q141P

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

chr11:116821636 T>G

NM_000482.4

p.Q141P

c.422A>C

Apolipoprotein

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

Surrounding Variants

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

chr11:116821631 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

chr11:116821642 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

1 paper

chr11:116821643 C>G

NM_000482.4

p.A139P

c.415G>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821644 G>A

NM_000482.4

p.Y138Y

c.414C>T

Apolipoprotein

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=6, 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

chr11:116821649 G>A

NM_000482.4

p.P137S

c.409C>T

Apolipoprotein

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

1 paper

chr11:116821651 T>C

NM_000482.4

p.E136G

c.407A>G

Apolipoprotein

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

1 paper

chr11:116821654 A>C

NM_000482.4

p.L135R

c.404T>G

Apolipoprotein

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

1 paper

chr11:116821654 AGGCGCT>A

NM_000482.4

p.Q133_R134del2

c.397_401del6

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

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

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

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