Varaico: Literature-Extracted Genetic Variants

Gene:SQLE

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
1–12 of 100 variants
12 papers
NM_003129.4
p.L393F
c.1177C>T
7 papers
NM_003129.4
p.A503V
c.1508C>T
5 papers
NM_003129.4
p.S397P
c.1189T>C
5 papers
NM_003129.4
p.G504R
c.1510G>C
3 papers
NM_003129.4
p.L251F
c.753A>C
3 papers
NM_003129.4
p.L251F
c.753A>T
2 papers
NM_003129.4
p.T3T
c.9T>A
2 papers
NM_003129.4
p.T9A
c.25A>G
2 papers
NM_003129.4
p.T11A
c.31A>G
2 papers
NM_003129.4
p.R49Q
c.146G>A
2 papers
NM_003129.4
p.S61A
c.181T>G
2 papers
NM_003129.4
p.S67A
c.199T>G
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