Varaico: Literature-Extracted Genetic Variants

Gene:SQLE
Variant:p.A503A

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
1 paper
NM_003129.4
p.A503A
c.1509G>T
Surrounding Variants
7 papers
NM_003129.4
p.A503V
c.1508C>T
5 papers
NM_003129.4
p.G504R
c.1510G>C
1 paper
NM_003129.4
p.E500K
c.1498G>A
1 paper
NM_003129.4
p.H485H
c.1455T>C
1 paper
NM_003129.4
p.G521E
c.1562G>A
1 paper
NM_003129.4
p.I561V
c.1681A>G
1 paper
NM_003129.4
p.D482H
c.1444G>C
1 paper
NM_003129.4
p.D481V
c.1442A>T
1 paper
NM_003129.4
p.L473I
c.1417C>A
2 papers
NM_003129.4
p.A470G
c.1409C>G
1 paper
NM_003129.4
p.V466M
c.1396G>A
1 paper
NM_003129.4
p.E449_A450Splc
c.1347+1G>A
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