Varaico: Literature-Extracted Genetic Variants

Gene:S1PR1
Variant:p.I70V

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.I70V
c.208A>G
Surrounding Variants
3 papers
NM_001400.5
p.I70S
c.209T>G
1 paper
NM_001400.5
p.L67_L68insFs
c.201_202insT
1 paper
NM_001400.5
p.L67fs
c.199_200fs
1 paper
NM_001400.5
p.F76insFs
c.226_227ins23
1 paper
NM_001400.5
p.P79S
c.235C>T
1 paper
NM_001400.5
p.Y81C
c.242A>G
1 paper
NM_001400.5
p.F52fs
c.154_155fs
1 paper
NM_001400.5
p.V51M
c.151G>A
1 paper
NM_001400.5
p.F52insFs
c.154_155insGT
1 paper
NM_001400.5
p.D91delFs
c.271delG
1 paper
NM_001400.5
p.S49L
c.146C>T
1 paper
NM_001400.5
p.D91A
c.272A>C
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