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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALOX15B

ALOX15B

67 papers

RefSeq Summary

This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidoni...

Pfam Domains

PLATaa 4–119UCSCPLAT/LH2 domain

Lipoxygenaseaa 186–661UCSCLipoxygenase

Gene Aliases

HGNC Name

arachidonate 15-lipoxygenase type B

HGNC Alias Symbol

15-LOX-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 97 variants

3 papers

chr17:8044921 C>T

NM_001141.3

p.L257F

c.769C>T

Lipoxygenase

Exome: 0.5% (AC=7810, hom=30)Genome: 0.4% (AC=575, hom=2)7 overlapping SVs

2 papers

chr17:8039467 C>G

NM_001141.3

p.P77A

c.229C>G

PLAT

Exome: 0.3% (AC=4012, hom=155)Genome: 2.7% (AC=4058, hom=171)8 overlapping SVs

2 papers

chr17:8039583 C>G

NM_001141.3

p.T115T

c.345C>G

PLAT

Exome: 39.0% (AC=509353, hom=96415)Genome: 31.7% (AC=46936, hom=7869)8 overlapping SVs

2 papers

chr17:8044857 C>T

NM_001141.3

p.D235D

c.705C>T

Lipoxygenase

Exome: 45.2% (AC=660040, hom=153415)Genome: 55.1% (AC=83228, hom=24978)7 overlapping SVs

2 papers

chr17:8045320 C>T

NM_001141.3

p.A311V

c.932C>T

Lipoxygenase

Exome: 0.3% (AC=4073, hom=58)Genome: 0.4% (AC=573, hom=7)7 overlapping SVs

2 papers

chr17:8045655 G>A

NM_001141.3

p.R390H

c.1169G>A

Lipoxygenase

Exome: 0.0% (AC=70, hom=0)Genome: 0.0% (AC=4, hom=0)8 overlapping SVs

2 papers

chr17:8047006 C>T

NM_001141.3

p.R463*

c.1387C>T

Lipoxygenase

Exome: 0.1% (AC=889, hom=1)Genome: 0.0% (AC=63, hom=0)7 overlapping SVs

2 papers

chr17:8047076 G>A

NM_001141.3

p.R486H

c.1457G>A

Lipoxygenase

Exome: 3.1% (AC=45056, hom=2407)Genome: 7.5% (AC=11388, hom=952)7 overlapping SVs

2 papers

chr17:8047343 A>G

NM_001141.3

p.I515V

c.1543A>G

Lipoxygenase

exact variant not in gnomAD7 overlapping SVs

2 papers

chr17:8047809 A>G

NM_001141.3

p.K582R

c.1745A>G

Lipoxygenase

exact variant not in gnomAD8 overlapping SVs

2 papers

chr17:8048414 A>G

NM_001141.3

p.H627R

c.1880A>G

Lipoxygenase

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

2 papers

chr17:8048473 A>G

NM_001141.3

p.I647V

c.1939A>G

Lipoxygenase

exact variant not in gnomAD8 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."