Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.A268P

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

chr11:116821256 C>G

NM_000482.4

p.A268P

c.802G>C

Apolipoprotein

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

Surrounding Variants

1 paper

chr11:116821253 G>C

NM_000482.4

p.P269A

c.805C>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821252 G>A

NM_000482.4

p.P269L

c.806C>T

Apolipoprotein

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

1 paper

chr11:116821264 T>G

NM_000482.4

p.Q265P

c.794A>C

Apolipoprotein

Exome: 0.0% (AC=4, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821267 C>A

NM_000482.4

p.R264L

c.791G>T

Apolipoprotein

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

1 paper

chr11:116821267 C>T

NM_000482.4

p.R264Q

c.791G>A

Apolipoprotein

Exome: 0.0% (AC=113, hom=0)Genome: 0.0% (AC=76, hom=0)19 overlapping SVs

1 paper

chr11:116821244 C>T

NM_000482.4

p.E272K

c.814G>A

Apolipoprotein

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=10, hom=0)19 overlapping SVs

1 paper

chr11:116821268 G>A

NM_000482.4

p.R264W

c.790C>T

Apolipoprotein

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821271 G>C

NM_000482.4

p.L263V

c.787C>G

Apolipoprotein

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

1 paper

chr11:116821240 T>C

NM_000482.4

p.D273G

c.818A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821239 G>A

NM_000482.4

p.D273D

c.819C>T

Apolipoprotein

Exome: 0.0% (AC=634, hom=6)Genome: 0.0% (AC=37, hom=1)19 overlapping SVs

1 paper

chr11:116821274 C>T

NM_000482.4

p.E262K

c.784G>A

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821237 A>C

NM_000482.4

p.V274G

c.821T>G

Apolipoprotein

Exome: n/aGenome: 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."