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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.T367S

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

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

Surrounding Variants

2 papers

chr11:116820958 G>A

NM_000482.4

p.T367I

c.1100C>T

Apolipoprotein

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

2 papers

chr11:116820959 T>C

NM_000482.4

p.T367A

c.1099A>G

Apolipoprotein

Exome: 0.1% (AC=1864, hom=7)Genome: 0.1% (AC=143, hom=0)19 overlapping SVs

1 paper

chr11:116820956 G>A

NM_000482.4

p.L368F

c.1102C>T

Apolipoprotein

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116820978 C>A

NM_000482.4

p.E360D

c.1080G>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116820992 T>C

NM_000482.4

p.S356G

c.1066A>G

Apolipoprotein

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)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

1 paper

chr11:116821000 G>A

NM_000482.4

p.S353F

c.1058C>T

Apolipoprotein

Exome: 0.0% (AC=23, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821001 A>C

NM_000482.4

p.S353A

c.1057T>G

Apolipoprotein

Exome: 0.1% (AC=1290, hom=23)Genome: 0.8% (AC=1154, hom=10)19 overlapping SVs

1 paper

chr11:116821003 T>C

NM_000482.4

p.N352S

c.1055A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

2 papers

chr11:116821004 T>A

NM_000482.4

p.N352Y

c.1054A>T

Apolipoprotein

Exome: 0.0% (AC=557, hom=0)Genome: 0.0% (AC=54, hom=0)19 overlapping SVs

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