Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.H393Q

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.H393Q
c.1179C>G
Surrounding Variants
1 paper
NM_001139.3
p.H393Q
c.1179C>A
3 papers
NM_001139.3
p.E394K
c.1180G>A
1 paper
NM_001139.3
p.H393Y
c.1177C>T
5 papers
NM_001139.3
p.H398Y
c.1192C>T
2 papers
NM_001139.3
p.A388V
c.1163C>T
1 paper
NM_001139.3
p.A388T
c.1162G>A
1 paper
NM_001139.3
p.Y387*
c.1161T>G
1 paper
NM_001139.3
p.R386L
c.1157G>T
4 papers
NM_001139.3
p.R386H
c.1157G>A
9 papers
NM_001139.3
p.R386C
c.1156C>T
1 paper
NM_001139.3
p.V385A
c.1154T>C
2 papers
NM_001139.3
p.V385delFs
c.1153delC
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