Varaico: Literature-Extracted Genetic Variants

Gene:PTGIS

PTGIS

129 papers

RefSeq Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cho...

Pfam Domains

p450aa 190–494UCSCCytochrome P450

Gene Aliases

HGNC Name

prostaglandin I2 synthase

HGNC Alias Symbols

PGIS; CYP8A1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
19 papers
NM_000961.4
p.R373R
c.1117C>A
6 papers
NM_000961.4
p.R275Q
c.824G>A
6 papers
NM_000961.4
p.A447T
c.1339G>A
4 papers
NM_000961.4
p.E314*
c.940G>T
4 papers
NM_000961.4
p.P500S
c.1498C>T
3 papers
NM_000961.4
p.S118R
c.352A>C
3 papers
NM_000961.4
p.S118R
c.354T>G
3 papers
NM_000961.4
p.S118R
c.354T>A
3 papers
NM_000961.4
p.R197R
c.591C>T
3 papers
NM_000961.4
p.R236C
c.706C>T
3 papers
NM_000961.4
p.L241L
c.723A>G
3 papers
NM_000961.4
p.R249W
c.745C>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."