Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.P127S

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
11 papers
NM_001139.3
p.P127S
c.379C>T
Surrounding Variants
2 papers
NM_001139.3
p.P127L
c.380C>T
1 paper
NM_001139.3
p.L126F
c.376C>T
1 paper
NM_001139.3
p.V128A
c.383T>C
1 paper
NM_001139.3
p.L129F
c.385C>T
1 paper
NM_001139.3
p.D124V
c.371A>T
2 papers
NM_001139.3
p.L130_E131del2
c.388_392del6
1 paper
NM_001139.3
p.R133G
c.397A>G
1 paper
NM_001139.3
p.T120I
c.359C>T
1 paper
NM_001139.3
p.E135K
c.403G>A
1 paper
NM_001139.3
p.E135D
c.405G>T
1 paper
NM_001139.3
p.E135D
c.405G>C
1 paper
NM_001139.3
p.G118Splc
c.353-1G>A
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