Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.L370del1

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.L370del1
c.1108_1109delCAG
Surrounding Variants
1 paper
NM_001139.3
p.L370P
c.1109T>C
1 paper
NM_001139.3
p.I368delFs
c.1103delA
2 papers
NM_001139.3
p.C366*
c.1098C>A
1 paper
NM_001139.3
p.C366F
c.1097G>T
2 papers
NM_001139.3
p.W376*
c.1127G>A
1 paper
NM_001139.3
p.W376*
c.1128G>A
1 paper
NM_001139.3
p.D377N
c.1129G>A
1 paper
NM_001139.3
p.A381T
c.1141G>A
2 papers
NM_001139.3
p.K382E
c.1144A>G
4 papers
NM_001139.3
p.Q360E
c.1078C>G
1 paper
NM_001139.3
p.T383A
c.1147A>G
1 paper
NM_001139.3
p.S359I
c.1076G>T
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