Varaico: Literature-Extracted Genetic Variants

Gene:S1PR1
Variant:p.I224T

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.I224T
c.671T>C
Surrounding Variants
1 paper
NM_001400.5
p.I224S
c.671T>G
1 paper
NM_001400.5
p.C222Y
c.665G>A
1 paper
NM_001400.5
p.L227S
c.680T>C
1 paper
NM_001400.5
p.I219T
c.656T>C
1 paper
NM_001400.5
p.I217fs
c.649_650fs
1 paper
NM_001400.5
p.L212P
c.635T>C
2 papers
NM_001400.5
p.R238C
c.712C>T
1 paper
NM_001400.5
p.T207I
c.620C>T
1 paper
NM_001400.5
p.A244D
c.731C>A
1 paper
NM_001400.5
p.A244A
c.732C>A
1 paper
NM_001400.5
p.S245N
c.734G>A
1 paper
NM_001400.5
p.Y202F
c.605A>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."