Varaico: Literature-Extracted Genetic Variants

Gene:PTGIR
Variant:p.L253M

PTGIR

83 papers

RefSeq Summary

The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macro...

Pfam Domains

7tm_1aa 30–292UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

prostaglandin I2 receptor

HGNC Previous Name

prostaglandin I2 (prostacyclin) receptor (IP)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000960.4
p.L253M
c.757C>A
Surrounding Variants
1 paper
NM_000960.4
p.S252T
c.754T>A
1 paper
NM_000960.4
p.C251C
c.753C>T
1 paper
NM_000960.4
p.L255H
c.764T>A
2 papers
NM_000960.4
p.T256_I257Splc
c.768+1G>C
1 paper
NM_000960.4
p.D236A
c.707A>C
2 papers
NM_000960.4
p.G231R
c.691G>C
2 papers
NM_000960.4
p.G231R
c.691G>A
1 paper
NM_000960.4
p.R229H
c.686G>A
1 paper
NM_000960.4
p.R229C
c.685C>T
1 paper
NM_000960.4
p.R227W
c.679C>T
3 papers
NM_000960.4
p.P226T
c.676C>A
1 paper
NM_000960.4
p.L224P
c.671T>C
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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."