Varaico: Literature-Extracted Genetic Variants

Gene:SPHK1
Variant:p.G113D

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.G113D
c.338G>A
Surrounding Variants
3 papers
NM_001142601.2
p.G113A
c.338G>C
1 paper
NM_001142601.2
p.G111D
c.332G>A
1 paper
NM_001142601.2
p.G111A
c.332G>C
1 paper
NM_001142601.2
p.G111S
c.331G>A
1 paper
NM_001142601.2
p.L105P
c.314T>C
1 paper
NM_001142601.2
p.P104A
c.310C>G
1 paper
NM_001142601.2
p.K103R
c.308A>G
1 paper
NM_001142601.2
p.D96D
c.288C>T
1 paper
NM_001142601.2
p.R94W
c.280C>T
2 papers
NM_001142601.2
p.G82A
c.245G>C
1 paper
NM_001142601.2
p.D81A
c.242A>C
1 paper
NM_001142601.2
p.D81N
c.241G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."