Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.F290L

SGPL1

151 papers

Pfam Domains

Pyridoxal_deCaa 175–453UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

sphingosine-1-phosphate lyase 1

HGNC Alias Symbol

SPL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_003901.4
p.F290L
c.870T>G
Surrounding Variants
11 papers
NM_003901.4
p.F290L
c.870T>A
11 papers
NM_003901.4
p.F290L
c.868T>C
1 paper
NM_003901.4
p.Q289fs
c.865_866fs
1 paper
NM_003901.4
p.Q289*
c.865C>T
1 paper
NM_003901.4
p.Q289fs
c.865_866fs
5 papers
NM_003901.4
p.C285Y
c.854G>A
3 papers
NM_003901.4
p.N279K
c.837C>A
3 papers
NM_003901.4
p.N279K
c.837C>G
1 paper
NM_003901.4
p.R278fs
c.832_833fs
8 papers
NM_003901.4
p.R278fs
c.832_833fs
5 papers
NM_003901.4
p.R278delFs
c.832delA
1 paper
NM_003901.4
p.R274K
c.821G>A
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