Varaico: Literature-Extracted Genetic Variants

Gene:SQLE
Variant:p.L38insFs

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.L38insFs
c.113dupT
Surrounding Variants
1 paper
NM_003129.4
p.S37A
c.109T>G
1 paper
NM_003129.4
p.F35L
c.105C>A
1 paper
NM_003129.4
p.S43A
c.127T>G
1 paper
NM_003129.4
p.S43C
c.128C>G
1 paper
NM_003129.4
p.C31S
c.92G>C
1 paper
NM_003129.4
p.C31S
c.91T>A
1 paper
NM_003129.4
p.C46S
c.136T>A
1 paper
NM_003129.4
p.C46S
c.137G>C
2 papers
NM_003129.4
p.R49Q
c.146G>A
1 paper
NM_003129.4
p.L54P
c.161T>C
1 paper
NM_003129.4
p.F20Y
c.59T>A
1 paper
NM_003129.4
p.D19G
c.56A>G
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