Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.F463delFs

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.F463delFs
c.1389delA
Surrounding Variants
1 paper
NM_001139.3
p.F463S
c.1388T>C
1 paper
NM_001139.3
p.F463fs
c.1387_1388fs
1 paper
NM_001139.3
p.G465V
c.1394G>T
4 papers
NM_001139.3
p.G462D
c.1385G>A
1 paper
NM_001139.3
p.G462R
c.1384G>C
2 papers
NM_001139.3
p.G462S
c.1384G>A
2 papers
NM_001139.3
p.E461K
c.1381G>A
7 papers
NM_001139.3
p.R469W
c.1405C>T
1 paper
NM_001139.3
p.S457P
c.1369T>C
1 paper
NM_001139.3
p.L471P
c.1412T>C
1 paper
NM_001139.3
p.S472L
c.1415C>T
1 paper
NM_001139.3
p.L474F
c.1420C>T
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