Varaico: Literature-Extracted Genetic Variants

Gene:SPHK1
Variant:p.G342V

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.G342V
c.1025G>T
Surrounding Variants
1 paper
NM_001142601.2
p.A326A
c.978C>A
1 paper
NM_001142601.2
p.P374S
c.1120C>T
1 paper
NM_001142601.2
p.G309D
c.926G>A
1 paper
NM_001142601.2
p.E382_P383del2
c.1144_1148del6
1 paper
NM_001142601.2
p.R291W
c.871C>T
1 paper
NM_001142601.2
p.F288L
c.864C>A
1 paper
NM_001142601.2
p.F288L
c.864C>G
1 paper
NM_001142601.2
p.F288L
c.862T>C
1 paper
NM_001142601.2
p.V252fs
c.754_755fs
1 paper
NM_001142601.2
p.V252delFs
c.755delT
1 paper
NM_001142601.2
p.L238F
c.712C>T
1 paper
NM_001142601.2
p.P226P
c.678C>T
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