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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTGIR

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 155 variants

12 papers

chr19:46623592 G>A

NM_000960.4

p.R212C

c.634C>T

7tm_1

Exome: 0.9% (AC=12849, hom=82)Genome: 0.7% (AC=1048, hom=4)12 overlapping SVs

9 papers

chr19:46623591 C>T

NM_000960.4

p.R212H

c.635G>A

7tm_1

Exome: 0.1% (AC=945, hom=14)Genome: 0.1% (AC=202, hom=4)12 overlapping SVs

7 papers

chr19:46624153 C>T

NM_000960.4

p.V25M

c.73G>A

Exome: 0.1% (AC=2056, hom=53)Genome: 1.5% (AC=2360, hom=57)12 overlapping SVs

5 papers

chr19:46624182 A>G

NM_000960.4

p.V15A

c.44T>C

Exome: 0.6% (AC=8575, hom=42)Genome: 0.4% (AC=645, hom=3)12 overlapping SVs

5 papers

chr19:46623739 G>A

NM_000960.4

p.Q163*

c.487C>T

7tm_1

Exome: 0.0% (AC=189, hom=0)Genome: 0.0% (AC=11, hom=0)12 overlapping SVs

5 papers

chr19:46621606 G>A

NM_000960.4

p.R279C

c.835C>T

7tm_1

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=6, hom=0)13 overlapping SVs

3 papers

chr19:46624026 A>G

NM_000960.4

p.L67P

c.200T>C

7tm_1

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=2, hom=0)12 overlapping SVs

3 papers

chr19:46623997 G>A

NM_000960.4

p.R77C

c.229C>T

7tm_1

Exome: 0.0% (AC=76, hom=1)Genome: 0.0% (AC=17, hom=0)12 overlapping SVs

3 papers

chr19:46623844 C>T

NM_000960.4

p.A128T

c.382G>A

7tm_1

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

3 papers

chr19:46623583 G>A

NM_000960.4

p.R215C

c.643C>T

7tm_1

Exome: 0.0% (AC=187, hom=0)Genome: 0.0% (AC=20, hom=0)12 overlapping SVs

3 papers

chr19:46623550 G>T

NM_000960.4

p.P226T

c.676C>A

7tm_1

Exome: 0.3% (AC=4438, hom=22)Genome: 0.2% (AC=267, hom=0)12 overlapping SVs

3 papers

chr19:46621485 G>C

NM_000960.4

p.S319W

c.956C>G

Exome: 0.3% (AC=4100, hom=165)Genome: 2.7% (AC=4063, hom=161)13 overlapping SVs

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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."