Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.T628M

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.T628M
c.1883C>T
Surrounding Variants
1 paper
NM_001139.3
p.L630P
c.1889T>C
1 paper
NM_001139.3
p.C626R
c.1876T>C
1 paper
NM_001139.3
p.T624I
c.1871C>T
1 paper
NM_001139.3
p.W633*
c.1898G>A
1 paper
NM_001139.3
p.W633*
c.1899G>A
1 paper
NM_001139.3
p.L632_W633del2
c.1894_1898del6
1 paper
NM_001139.3
p.L635F
c.1903C>T
1 paper
NM_001139.3
p.D621Y
c.1861G>T
2 papers
NM_001139.3
p.S636I
c.1907G>T
2 papers
NM_001139.3
p.P620Q
c.1859C>A
1 paper
NM_001139.3
p.R637G
c.1909C>G
1 paper
NM_001139.3
p.D640fs
c.1918_1919fs
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