Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.T402R

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
2 papers
NM_001139.3
p.T402R
c.1205C>G
Surrounding Variants
3 papers
NM_001139.3
p.H403Y
c.1207C>T
1 paper
NM_001139.3
p.H403R
c.1208A>G
1 paper
NM_001139.3
p.L404R
c.1211T>G
5 papers
NM_001139.3
p.H398Y
c.1192C>T
1 paper
NM_001139.3
p.E407K
c.1219G>A
1 paper
NM_001139.3
p.C410F
c.1229G>T
3 papers
NM_001139.3
p.E394K
c.1180G>A
1 paper
NM_001139.3
p.H393Q
c.1179C>G
1 paper
NM_001139.3
p.H393Q
c.1179C>A
1 paper
NM_001139.3
p.H393Y
c.1177C>T
1 paper
NM_001139.3
p.A412insFs
c.1235_1236insA
1 paper
NM_001139.3
p.A412D
c.1235C>A
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