Varaico: Literature-Extracted Genetic Variants

Gene:SQLE
Variant:p.D408V

SQLE

107 papers

Pfam Domains

NAD_binding_8aa 128–156UCSCNAD(P)-binding Rossmann-like domain
SEaa 277–548UCSCSqualene epoxidase

Gene Aliases

HGNC Name

squalene epoxidase

HGNC Alias Name

squalene monooxygenase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003129.4
p.D408V
c.1223A>T
Surrounding Variants
1 paper
NM_003129.4
p.L404F
c.1210C>T
1 paper
NM_003129.4
p.T417S
c.1249A>T
1 paper
NM_003129.4
p.T417S
c.1250C>G
1 paper
NM_003129.4
p.M421V
c.1261A>G
1 paper
NM_003129.4
p.L430V
c.1288C>G
1 paper
NM_003129.4
p.R432K
c.1295G>A
1 paper
NM_003129.4
p.D443_D444insFs
c.1329_1330insC
1 paper
NM_003129.4
p.E449_A450Splc
c.1347+1G>A
1 paper
NM_003129.4
p.V466M
c.1396G>A
2 papers
NM_003129.4
p.A470G
c.1409C>G
1 paper
NM_003129.4
p.L473I
c.1417C>A
1 paper
NM_003129.4
p.D481V
c.1442A>T
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