Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.Q534*

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.Q534*
c.1600C>T
Surrounding Variants
2 papers
NM_001139.3
p.E532Q
c.1594G>C
1 paper
NM_001139.3
p.E532K
c.1594G>A
1 paper
NM_001139.3
p.W536*
c.1607G>A
1 paper
NM_001139.3
p.W536*
c.1608G>A
2 papers
NM_001139.3
p.P531L
c.1592C>T
3 papers
NM_001139.3
p.V537M
c.1609G>A
2 papers
NM_001139.3
p.P531S
c.1591C>T
2 papers
NM_001139.3
p.Q538P
c.1613A>C
1 paper
NM_001139.3
p.Q538Q
c.1614G>A
1 paper
NM_001139.3
p.E539K
c.1615G>A
1 paper
NM_001139.3
p.E539G
c.1616A>G
1 paper
NM_001139.3
p.V527A
c.1580T>C
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