Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.K542fs

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.K542fs
c.1624_1625fs
Surrounding Variants
6 papers
NM_001139.3
p.K542delFs
c.1625_1626delTT
4 papers
NM_001139.3
p.C544R
c.1630T>C
1 paper
NM_001139.3
p.E539G
c.1616A>G
1 paper
NM_001139.3
p.E539K
c.1615G>A
1 paper
NM_001139.3
p.L545R
c.1634T>G
1 paper
NM_001139.3
p.Q538Q
c.1614G>A
2 papers
NM_001139.3
p.Q538P
c.1613A>C
1 paper
NM_001139.3
p.G547R
c.1639G>C
3 papers
NM_001139.3
p.V537M
c.1609G>A
1 paper
NM_001139.3
p.G547R
c.1639G>A
1 paper
NM_001139.3
p.W536*
c.1608G>A
1 paper
NM_001139.3
p.W536*
c.1607G>A
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