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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALOX12

ALOX12

98 papers

RefSeq Summary

This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoid...

Pfam Domains

PLATaa 4–109UCSCPLAT/LH2 domain

Lipoxygenaseaa 176–649UCSCLipoxygenase

Gene Aliases

HGNC Name

arachidonate 12-lipoxygenase, 12S type

HGNC Alias Symbol

12S-LOX

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 93 variants

12 papers

chr17:6999441 A>G

NM_000697.3

p.Q261R

c.782A>G

Lipoxygenase

Exome: 58.1% (AC=848652, hom=247954)Genome: 61.4% (AC=93323, hom=28848)7 overlapping SVs

9 papers

chr17:7001615 A>G

NM_000697.3

p.N322S

c.965A>G

Lipoxygenase

Exome: 41.2% (AC=601532, hom=126544)Genome: 34.0% (AC=51624, hom=9626)9 overlapping SVs

2 papers

chr17:6999424 G>C

NM_000697.3

p.S255S

c.765G>C

Lipoxygenase

exact variant not in gnomAD7 overlapping SVs

2 papers

chr17:7005306 G>A

NM_000697.3

p.R404Q

c.1211G>A

Lipoxygenase

Exome: 0.4% (AC=5932, hom=27)Genome: 0.3% (AC=412, hom=1)10 overlapping SVs

2 papers

chr17:7005873 G>A

NM_000697.3

p.G422R

c.1264G>A

Lipoxygenase

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

2 papers

chr17:7005873 G>C

NM_000697.3

p.G422R

c.1264G>C

Lipoxygenase

exact variant not in gnomAD11 overlapping SVs

2 papers

chr17:7005874 G>A

NM_000697.3

p.G422E

c.1265G>A

Lipoxygenase

exact variant not in gnomAD11 overlapping SVs

2 papers

chr17:7006519 A>G

NM_000697.3

p.Q484Q

c.1452A>G

Lipoxygenase

Exome: 8.0% (AC=116421, hom=7678)Genome: 7.9% (AC=12061, hom=866)9 overlapping SVs

2 papers

chr17:7010017 C>A

NM_000697.3

p.T568N

c.1703C>A

Lipoxygenase

Exome: 0.5% (AC=7177, hom=29)Genome: 0.4% (AC=660, hom=1)9 overlapping SVs

1 paper

chr17:6996121 G>A

NM_000697.3

p.G2S

c.4G>A

Exome: 0.0% (AC=3, hom=1)Genome: n/a6 overlapping SVs

1 paper

chr17:6996121 G>T

NM_000697.3

p.G2C

c.4G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:6996235 C>T

NM_000697.3

p.R40W

c.118C>T

PLAT

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

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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."