Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.K607*

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.K607*
c.1819A>T
Surrounding Variants
3 papers
NM_001139.3
p.K607N
c.1821G>T
3 papers
NM_001139.3
p.K607N
c.1821G>C
1 paper
NM_001139.3
p.I604I
c.1812T>A
1 paper
NM_001139.3
p.T610I
c.1829C>T
2 papers
NM_001139.3
p.P603L
c.1808C>T
1 paper
NM_001139.3
p.P602insFs
c.1804dupC
2 papers
NM_001139.3
p.R600W
c.1798C>T
1 paper
NM_001139.3
p.M599I
c.1797G>T
1 paper
NM_001139.3
p.M599I
c.1797G>C
1 paper
NM_001139.3
p.M599I
c.1797G>A
10 papers
NM_001139.3
p.A597E
c.1790C>A
1 paper
NM_001139.3
p.A597T
c.1789G>A
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