Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA4

Variant:p.N127K

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

3 papers

chr11:116821677 G>C

NM_000482.4

p.N127K

c.381C>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

1 paper

chr11:116821677 G>A

NM_000482.4

p.N127N

c.381C>T

Apolipoprotein

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

4 papers

chr11:116821677 G>T

NM_000482.4

p.N127K

c.381C>A

Apolipoprotein

Exome: 0.3% (AC=4139, hom=13)Genome: 0.2% (AC=314, hom=0)19 overlapping SVs

1 paper

chr11:116821678 T>C

NM_000482.4

p.N127S

c.380A>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821672 C>T

NM_000482.4

p.R129Q

c.386G>A

Apolipoprotein

Exome: 0.0% (AC=6, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:116821685 C>G

NM_000482.4

p.G125R

c.373G>C

Apolipoprotein

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

1 paper

chr11:116821685 C>T

NM_000482.4

p.G125R

c.373G>A

Apolipoprotein

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=38, hom=0)19 overlapping SVs

1 paper

chr11:116821687 A>C

NM_000482.4

p.I124S

c.371T>G

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:116821687 A>G

NM_000482.4

p.I124T

c.371T>C

Apolipoprotein

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

1 paper

chr11:116821664 G>A

NM_000482.4

p.Q132*

c.394C>T

Apolipoprotein

exact variant not in gnomAD19 overlapping SVs

3 papers

chr11:116821658 G>A

NM_000482.4

p.R134C

c.400C>T

Apolipoprotein

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

2 papers

chr11:116821698 C>A

NM_000482.4

p.V120V

c.360G>T

Apolipoprotein

Exome: 0.0% (AC=2, 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

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."