Varaico: Literature-Extracted Genetic Variants

Gene:SGPP1

SGPP1

65 papers

RefSeq Summary

Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into lon...

Pfam Domains

PAP2aa 160–281UCSCPAP2 superfamily

Gene Aliases

HGNC Name

sphingosine-1-phosphate phosphatase 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
2 papers
NM_030791.4
p.S243F
c.728C>T
2 papers
NM_030791.4
p.C399C
c.1197T>C
1 paper
NM_030791.4
p.L3insFs
c.7dupC
1 paper
NM_030791.4
p.G12V
c.35G>T
1 paper
NM_030791.4
p.D16G
c.47A>G
1 paper
NM_030791.4
p.V20E
c.59T>A
1 paper
NM_030791.4
p.A37E
c.110C>A
1 paper
NM_030791.4
p.G65S
c.193G>A
1 paper
NM_030791.4
p.R73P
c.218G>C
1 paper
NM_030791.4
p.E96V
c.287A>T
1 paper
NM_030791.4
p.R109R
c.327C>T
1 paper
NM_030791.4
p.S112S
c.336G>T
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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."