Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.Y160C

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

chr11:116821579 T>C

NM_000482.4

p.Y160C

c.479A>G

Apolipoprotein

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821578 G>A

NM_000482.4

p.Y160Y

c.480C>T

Apolipoprotein

Exome: 0.0% (AC=105, hom=0)Genome: 0.0% (AC=12, hom=0)19 overlapping SVs

7 papers

chr11:116821577 C>A

NM_000482.4

p.A161S

c.481G>T

Apolipoprotein

Exome: 1.0% (AC=14020, hom=83)Genome: 0.7% (AC=1065, hom=6)19 overlapping SVs

4 papers

chr11:116821576 G>A

NM_000482.4

p.A161V

c.482C>T

Apolipoprotein

Exome: 0.0% (AC=13, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821582 G>A

NM_000482.4

p.P159L

c.476C>T

Apolipoprotein

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

1 paper

chr11:116821582 G>C

NM_000482.4

p.P159R

c.476C>G

Apolipoprotein

Exome: 0.0% (AC=58, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821583 G>C

NM_000482.4

p.P159A

c.475C>G

Apolipoprotein

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

1 paper

chr11:116821571 G>A

NM_000482.4

p.R163C

c.487C>T

Apolipoprotein

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821570 C>A

NM_000482.4

p.R163L

c.488G>T

Apolipoprotein

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

1 paper

chr11:116821570 C>T

NM_000482.4

p.R163H

c.488G>A

Apolipoprotein

Exome: 0.0% (AC=25, hom=1)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:116821568 T>C

NM_000482.4

p.M164V

c.490A>G

Apolipoprotein

Exome: 0.0% (AC=5, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821568 T>G

NM_000482.4

p.M164L

c.490A>C

Apolipoprotein

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

1 paper

chr11:116821591 T>G

NM_000482.4

p.Q156P

c.467A>C

Apolipoprotein

Exome: 0.0% (AC=4, 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."