Varaico: Literature-Extracted Genetic Variants

Gene:SPHK1
Variant:p.L194Q

SPHK1

67 papers

RefSeq Summary

The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P...

Pfam Domains

DAGK_cataa 16–154UCSCDiacylglycerol kinase catalytic domain

Gene Aliases

HGNC Name

sphingosine kinase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001142601.2
p.L194Q
c.581T>A
Surrounding Variants
1 paper
NM_001142601.2
p.T193S
c.578C>G
1 paper
NM_001142601.2
p.T193S
c.577A>T
3 papers
NM_001142601.2
p.L198Q
c.593T>A
1 paper
NM_001142601.2
p.R199delFs
c.596delG
1 paper
NM_001142601.2
p.G188E
c.563G>A
1 paper
NM_001142601.2
p.A201V
c.602C>T
1 paper
NM_001142601.2
p.A202V
c.605C>T
1 paper
NM_001142601.2
p.G216fs
c.646_647fs
1 paper
NM_001142601.2
p.S165A
c.493T>G
2 papers
NM_001142601.2
p.S225A
c.673T>G
1 paper
NM_001142601.2
p.R162C
c.484C>T
1 paper
NM_001142601.2
p.P226P
c.678C>T
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