Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.D20insFs

ALOX12B

251 papers

RefSeq Summary

This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythrode...

Pfam Domains

PLATaa 4–114UCSCPLAT/LH2 domain
Lipoxygenaseaa 237–684UCSCLipoxygenase

Gene Aliases

HGNC Name

arachidonate 12-lipoxygenase, 12R type

HGNC Alias Symbol

12R-LOX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001139.3
p.D20insFs
c.59_60insG
Surrounding Variants
1 paper
NM_001139.3
p.D20Y
c.58G>T
2 papers
NM_001139.3
p.R19W
c.55C>T
2 papers
NM_001139.3
p.T18I
c.53C>T
1 paper
NM_001139.3
p.S23P
c.67T>C
1 paper
NM_001139.3
p.S23L
c.68C>T
4 papers
NM_001139.3
p.L24P
c.71T>C
7 papers
NM_001139.3
p.S16L
c.47C>T
1 paper
NM_001139.3
p.S16W
c.47C>G
1 paper
NM_001139.3
p.L15L
c.45G>A
1 paper
NM_001139.3
p.T25S
c.73A>T
1 paper
NM_001139.3
p.T25S
c.74C>G
1 paper
NM_001139.3
p.L14L
c.42C>T
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