Varaico: Literature-Extracted Genetic Variants

Gene:SQLE
Variant:p.L251F

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
3 papers
NM_003129.4
p.L251F
c.753A>T
Surrounding Variants
3 papers
NM_003129.4
p.L251F
c.753A>C
1 paper
NM_003129.4
p.E256K
c.766G>A
1 paper
NM_003129.4
p.G262fs
c.784_785fs
1 paper
NM_003129.4
p.V263G
c.788T>G
1 paper
NM_003129.4
p.D272A
c.815A>C
1 paper
NM_003129.4
p.E275A
c.824A>C
1 paper
NM_003129.4
p.A284T
c.850G>A
1 paper
NM_003129.4
p.A284P
c.850G>C
1 paper
NM_003129.4
p.G286R
c.856G>A
1 paper
NM_003129.4
p.G286R
c.856G>C
1 paper
NM_003129.4
p.L287V
c.859C>G
1 paper
NM_003129.4
p.H305Y
c.913C>T
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