Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.T514M

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.T514M
c.1541C>T
Surrounding Variants
1 paper
NM_001139.3
p.E515D
c.1545G>T
1 paper
NM_001139.3
p.E515D
c.1545G>C
1 paper
NM_001139.3
p.K511Splc
c.1533-1G>T
1 paper
NM_001139.3
p.K511Splc
c.1533-2A>G
1 paper
NM_001139.3
p.Y520C
c.1559A>G
20 papers
NM_001139.3
p.Y521C
c.1562A>G
5 papers
NM_001139.3
p.P522L
c.1565C>T
2 papers
NM_001139.3
p.A525T
c.1573G>A
13 papers
NM_001139.3
p.V527M
c.1579G>A
1 paper
NM_001139.3
p.V527A
c.1580T>C
2 papers
NM_001139.3
p.P531S
c.1591C>T
2 papers
NM_001139.3
p.P531L
c.1592C>T
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