Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.L493M

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.L493M
c.1477C>A
Surrounding Variants
1 paper
NM_001139.3
p.Y497F
c.1490A>T
10 papers
NM_001139.3
p.R488H
c.1463G>A
3 papers
NM_001139.3
p.R488C
c.1462C>T
1 paper
NM_001139.3
p.G489_Y498delFs
c.1465_1492del28
1 paper
NM_001139.3
p.E487G
c.1460A>G
1 paper
NM_001139.3
p.E487K
c.1459G>A
3 papers
NM_001139.3
p.R499C
c.1495C>T
4 papers
NM_001139.3
p.R499H
c.1496G>A
2 papers
NM_001139.3
p.D500Y
c.1498G>T
2 papers
NM_001139.3
p.D500H
c.1498G>C
3 papers
NM_001139.3
p.D500N
c.1498G>A
1 paper
NM_001139.3
p.F485delFs
c.1454_1455delAA
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