Varaico: Literature-Extracted Genetic Variants

Gene:SPHK1
Variant:p.M1V

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
1 paper
NM_001142601.2
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001142601.2
p.M1insFs
c.2_3insT
1 paper
NM_001142601.2
p.M1L
c.1A>C
1 paper
NM_001142601.2
p.M1L
c.1A>T
1 paper
NM_001142601.2
p.P3insFs
c.7dupC
1 paper
NM_001142601.2
p.A4V
c.11C>T
1 paper
NM_001142601.2
p.G9D
c.26G>A
1 paper
NM_001142601.2
p.P12delFs
c.35_36delCG
1 paper
NM_001142601.2
p.V19E
c.56T>A
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.G28S
c.82G>A
2 papers
NM_001142601.2
p.A30T
c.88G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."