Varaico: Literature-Extracted Genetic Variants

Gene:SQLE
Variant:p.D370Splc

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.D370Splc
c.1109-2A>T
Surrounding Variants
12 papers
NM_003129.4
p.L393F
c.1177C>T
2 papers
NM_003129.4
p.L393P
c.1178T>C
2 papers
NM_003129.4
p.S397T
c.1189T>A
5 papers
NM_003129.4
p.S397P
c.1189T>C
1 paper
NM_003129.4
p.G402Splc
c.1204+1G>A
1 paper
NM_003129.4
p.Y335F
c.1004A>T
1 paper
NM_003129.4
p.S330insFs
c.988dupA
1 paper
NM_003129.4
p.E323K
c.967G>A
1 paper
NM_003129.4
p.N313Y
c.937A>T
1 paper
NM_003129.4
p.K312_N313Splc
c.937-72G>A
1 paper
NM_003129.4
p.H305Y
c.913C>T
1 paper
NM_003129.4
p.L287V
c.859C>G
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