Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.S222R

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

chr11:116821392 G>T

NM_000482.4

p.S222R

c.666C>A

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821392 G>C

NM_000482.4

p.S222R

c.666C>G

Apolipoprotein

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

1 paper

chr11:116821391 G>A

NM_000482.4

p.L223L

c.667C>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821394 T>G

NM_000482.4

p.S222R

c.664A>C

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821388 C>A

NM_000482.4

p.A224S

c.670G>T

Apolipoprotein

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

1 paper

chr11:116821396 C>T

NM_000482.4

p.R221H

c.662G>A

Apolipoprotein

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=5, hom=0)19 overlapping SVs

1 paper

chr11:116821397 G>A

NM_000482.4

p.R221C

c.661C>T

Apolipoprotein

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=5, hom=0)19 overlapping SVs

2 papers

chr11:116821399 C>T

NM_000482.4

p.R220H

c.659G>A

Apolipoprotein

Exome: 0.0% (AC=142, hom=1)Genome: 0.0% (AC=11, hom=0)19 overlapping SVs

1 paper

chr11:116821385 G>C

NM_000482.4

p.P225A

c.673C>G

Apolipoprotein

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

1 paper

chr11:116821400 G>A

NM_000482.4

p.R220C

c.658C>T

Apolipoprotein

Exome: 0.0% (AC=39, hom=1)Genome: 0.0% (AC=7, hom=0)19 overlapping SVs

1 paper

chr11:116821384 G>T

NM_000482.4

p.P225H

c.674C>A

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821403 G>T

NM_000482.4

p.L219M

c.655C>A

Apolipoprotein

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

1 paper

chr11:116821406 C>G

NM_000482.4

p.E218Q

c.652G>C

Apolipoprotein

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."