Varaico: Literature-Extracted Genetic Variants

Gene:S1PR1
Variant:p.L104W

S1PR1

84 papers

RefSeq Summary

The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and...

Pfam Domains

7tm_1aa 62–311UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

sphingosine-1-phosphate receptor 1

HGNC Previous Symbol

EDG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001400.5
p.L104W
c.311T>G
Surrounding Variants
1 paper
NM_001400.5
p.L104F
c.312G>C
1 paper
NM_001400.5
p.L104F
c.312G>T
1 paper
NM_001400.5
p.L103V
c.307C>G
1 paper
NM_001400.5
p.G106E
c.317G>A
1 paper
NM_001400.5
p.T99T
c.297A>C
1 paper
NM_001400.5
p.D91A
c.272A>C
1 paper
NM_001400.5
p.D91delFs
c.271delG
3 papers
NM_001400.5
p.R120P
c.359G>C
1 paper
NM_001400.5
p.E121fs
c.361_362fs
1 paper
NM_001400.5
p.E121*
c.361G>T
2 papers
NM_001400.5
p.G122_S123insFs
c.366_367insG
1 paper
NM_001400.5
p.G122R
c.364G>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."