Varaico: Literature-Extracted Genetic Variants

Gene:SPHK1
Variant:p.G28S

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.G28S
c.82G>A
Surrounding Variants
1 paper
NM_001142601.2
p.G26D
c.77G>A
1 paper
NM_001142601.2
p.G26A
c.77G>C
2 papers
NM_001142601.2
p.A30T
c.88G>A
1 paper
NM_001142601.2
p.R35_S36del2
c.103_107del6
1 paper
NM_001142601.2
p.V19E
c.56T>A
1 paper
NM_001142601.2
p.P12delFs
c.35_36delCG
1 paper
NM_001142601.2
p.G9D
c.26G>A
1 paper
NM_001142601.2
p.R56R
c.168G>A
1 paper
NM_001142601.2
p.L63L
c.187C>T
1 paper
NM_001142601.2
p.S79A
c.235T>G
1 paper
NM_001142601.2
p.G80A
c.239G>C
1 paper
NM_001142601.2
p.D81N
c.241G>A
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