Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.L427P

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.L427P
c.1280T>C
Surrounding Variants
5 papers
NM_001139.3
p.L426P
c.1277T>C
1 paper
NM_001139.3
p.H430Y
c.1288C>T
14 papers
NM_001139.3
p.R432*
c.1294C>T
1 paper
NM_001139.3
p.T431insFs
c.1292dupC
2 papers
NM_001139.3
p.R432Q
c.1295G>A
1 paper
NM_001139.3
p.T434T
c.1302C>A
1 paper
NM_001139.3
p.I437F
c.1309A>T
1 paper
NM_001139.3
p.S439R
c.1315A>C
1 paper
NM_001139.3
p.S439R
c.1317C>G
1 paper
NM_001139.3
p.S439R
c.1317C>A
4 papers
NM_001139.3
p.R442W
c.1324C>T
6 papers
NM_001139.3
p.R442Q
c.1325G>A
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