Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.Y4*

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.Y4*
c.12C>G
Surrounding Variants
1 paper
NM_001139.3
p.Y4*
c.12C>A
1 paper
NM_001139.3
p.Y4N
c.10T>A
1 paper
NM_001139.3
p.A2V
c.5C>T
1 paper
NM_001139.3
p.A2T
c.4G>A
1 paper
NM_001139.3
p.R7Fs
c.21delinsCTFs
1 paper
NM_001139.3
p.M1insFs
c.1dupA
1 paper
NM_001139.3
p.V8E
c.23T>A
3 papers
NM_001139.3
p.M1V
c.1A>G
1 paper
NM_001139.3
p.A9T
c.25G>A
1 paper
NM_001139.3
p.T10A
c.28A>G
1 paper
NM_001139.3
p.T12insFs
c.36dupC
1 paper
NM_001139.3
p.D13N
c.37G>A
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