Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALOX5

ALOX5

261 papers

RefSeq Summary

This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone ma...

Pfam Domains

PLATaa 4–113UCSCPLAT/LH2 domain

Lipoxygenaseaa 214–662UCSCLipoxygenase

Gene Aliases

HGNC Name

arachidonate 5-lipoxygenase

HGNC Alias Symbol

5-LOX

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 159 variants

20 papers

chr10:45425058 G>A

NM_000698.5

p.E254K

c.760G>A

Lipoxygenase

Exome: 0.3% (AC=5082, hom=167)Genome: 2.5% (AC=3791, hom=148)24 overlapping SVs

12 papers

chr10:45374300 C>T

NM_000698.5

p.T7T

c.21C>T

PLAT

Exome: 16.0% (AC=217071, hom=17998)Genome: 16.1% (AC=24529, hom=2056)27 overlapping SVs

11 papers

chr10:45382602 G>A

NM_000698.5

p.T90T

c.270G>A

PLAT

Exome: 1.5% (AC=21935, hom=1803)Genome: 9.1% (AC=13898, hom=1862)24 overlapping SVs

7 papers

chr10:45444169 A>G

NM_000698.5

p.P576P

c.1728A>G

Lipoxygenase

Exome: 6.8% (AC=95423, hom=3628)Genome: 9.2% (AC=14012, hom=868)24 overlapping SVs

6 papers

chr10:45425063 G>C

NM_000698.5

p.K255N

c.765G>C

Lipoxygenase

exact variant not in gnomAD24 overlapping SVs

5 papers

chr10:45382640 G>A

NM_000698.5

p.W103*

c.308G>A

PLAT

exact variant not in gnomAD24 overlapping SVs

3 papers

chr10:45382570 G>A

NM_000698.5

p.D80N

c.238G>A

PLAT

Exome: 0.0% (AC=12, hom=0)Genome: n/a24 overlapping SVs

3 papers

chr10:45428707 T>C

NM_000698.5

p.A308A

c.924T>C

Lipoxygenase

Exome: 0.0% (AC=1, hom=0)Genome: n/a24 overlapping SVs

3 papers

chr10:45443104 G>T

NM_000698.5

p.A447S

c.1339G>T

Lipoxygenase

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=3, hom=0)24 overlapping SVs

3 papers

chr10:45445598 G>A

NM_000698.5

p.V646I

c.1936G>A

Lipoxygenase

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=2, hom=0)24 overlapping SVs

2 papers

chr10:45374289 T>G

NM_000698.5

p.Y4D

c.10T>G

PLAT

exact variant not in gnomAD27 overlapping SVs

2 papers

chr10:45374299 C>T

NM_000698.5

p.T7I

c.20C>T

PLAT

Exome: 0.0% (AC=0, hom=0)Genome: n/a27 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."