Varaico: Literature-Extracted Genetic Variants

Gene:PTGER1
Variant:p.L126P

PTGER1

68 papers

RefSeq Summary

The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calc...

Pfam Domains

7tm_1aa 49–351UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

prostaglandin E receptor 1

HGNC Alias Symbol

EP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000955.3
p.L126P
c.377T>C
Surrounding Variants
1 paper
NM_000955.3
p.C123delFs
c.369delG
1 paper
NM_000955.3
p.F119V
c.355T>G
1 paper
NM_000955.3
p.E134A
c.401A>C
1 paper
NM_000955.3
p.C116S
c.347G>C
1 paper
NM_000955.3
p.C116S
c.346T>A
1 paper
NM_000955.3
p.G107R
c.319G>C
1 paper
NM_000955.3
p.L144_H145del0
c.430_435del6
1 paper
NM_000955.3
p.A147T
c.439G>A
1 paper
NM_000955.3
p.G92A
c.275G>C
1 paper
NM_000955.3
p.G92S
c.274G>A
2 papers
NM_000955.3
p.P91Q
c.272C>A
1 paper
NM_000955.3
p.I90I
c.270C>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."