Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.G552Splc

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
6 papers
NM_001139.3
p.G552Splc
c.1654+3A>G
Surrounding Variants
2 papers
NM_001139.3
p.G552Splc
c.1654+1G>A
2 papers
NM_001139.3
p.G552C
c.1654G>T
2 papers
NM_001139.3
p.R548Q
c.1643G>A
9 papers
NM_001139.3
p.R548W
c.1642C>T
1 paper
NM_001139.3
p.G547R
c.1639G>C
1 paper
NM_001139.3
p.G547R
c.1639G>A
1 paper
NM_001139.3
p.L545R
c.1634T>G
4 papers
NM_001139.3
p.C544R
c.1630T>C
6 papers
NM_001139.3
p.K542delFs
c.1625_1626delTT
1 paper
NM_001139.3
p.K542fs
c.1624_1625fs
1 paper
NM_001139.3
p.E539G
c.1616A>G
1 paper
NM_001139.3
p.E539K
c.1615G>A
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