Varaico: Literature-Extracted Genetic Variants

Gene:PTGER2
Variant:p.L40I

PTGER2

386 papers

RefSeq Summary

This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspir...

Pfam Domains

7tm_1aa 56–315UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

prostaglandin E receptor 2

HGNC Alias Symbols

EP2; COX-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000956.4
p.L40I
c.118C>A
Surrounding Variants
1 paper
NM_000956.4
p.L40F
c.118C>T
1 paper
NM_000956.4
p.I41V
c.121A>G
1 paper
NM_000956.4
p.A42G
c.125C>G
1 paper
NM_000956.4
p.L43_A44insFs
c.129_130insC
1 paper
NM_000956.4
p.A44E
c.131C>A
1 paper
NM_000956.4
p.S33*
c.98C>A
1 paper
NM_000956.4
p.S33L
c.98C>T
1 paper
NM_000956.4
p.F32L
c.96C>G
2 papers
NM_000956.4
p.A47V
c.140C>T
5 papers
NM_000956.4
p.M31I
c.93G>A
3 papers
NM_000956.4
p.V30V
c.90C>T
1 paper
NM_000956.4
p.S29F
c.86C>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."