Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.D44delFs

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
3 papers
NM_001139.3
p.D44delFs
c.130_131delTC
Surrounding Variants
1 paper
NM_001139.3
p.D44fs
c.130_131fs
1 paper
NM_001139.3
p.F45F
c.135T>C
2 papers
NM_001139.3
p.R43K
c.128G>A
1 paper
NM_001139.3
p.L38_F41del4
c.112_122del12
1 paper
NM_001139.3
p.Q36*
c.106C>T
2 papers
NM_001139.3
p.H34L
c.101A>T
1 paper
NM_001139.3
p.G31*
c.91G>T
1 paper
NM_001139.3
p.A49_V50Splc
c.147+37C>G
1 paper
NM_001139.3
p.T25S
c.74C>G
1 paper
NM_001139.3
p.T25S
c.73A>T
4 papers
NM_001139.3
p.L24P
c.71T>C
1 paper
NM_001139.3
p.S23L
c.68C>T
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