Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.P482insFs

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.P482insFs
c.1446dupC
Surrounding Variants
1 paper
NM_001139.3
p.N483S
c.1448A>G
1 paper
NM_001139.3
p.F485fs
c.1453_1454fs
1 paper
NM_001139.3
p.F485S
c.1454T>C
1 paper
NM_001139.3
p.F485delFs
c.1454_1455delAA
1 paper
NM_001139.3
p.E487K
c.1459G>A
1 paper
NM_001139.3
p.E487G
c.1460A>G
3 papers
NM_001139.3
p.R488C
c.1462C>T
1 paper
NM_001139.3
p.D477delFs
c.1431delG
10 papers
NM_001139.3
p.R488H
c.1463G>A
1 paper
NM_001139.3
p.D477fs
c.1429_1430fs
1 paper
NM_001139.3
p.Y476C
c.1427A>G
1 paper
NM_001139.3
p.L474F
c.1420C>T
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