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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P2RY11

P2RY11

34 papers

RefSeq Summary

The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for v...

Pfam Domains

7tm_1aa 45–321UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

purinergic receptor P2Y11

HGNC Alias Symbol

P2Y11

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 44 variants

6 papers

chr19:10113872 G>A

NM_002566.5

p.A87T

c.259G>A

7tm_1

Exome: 12.7% (AC=185843, hom=13524)Genome: 13.1% (AC=19974, hom=1578)10 overlapping SVs

5 papers

chr19:10114532 C>T

NM_002566.5

p.R307W

c.919C>T

7tm_1

Exome: 0.1% (AC=1273, hom=5)Genome: 0.1% (AC=125, hom=1)11 overlapping SVs

3 papers

chr19:10113899 C>T

NM_002566.5

p.R96C

c.286C>T

7tm_1

Exome: 0.0% (AC=30, hom=1)Genome: 0.0% (AC=7, hom=0)10 overlapping SVs

3 papers

chr19:10114169 G>A

NM_002566.5

p.E186K

c.556G>A

7tm_1

Exome: 0.1% (AC=738, hom=4)Genome: 0.1% (AC=86, hom=0)10 overlapping SVs

3 papers

chr19:10114395 A>G

NM_002566.5

p.Y261C

c.782A>G

7tm_1

Exome: 0.4% (AC=5908, hom=33)Genome: 0.3% (AC=391, hom=0)11 overlapping SVs

3 papers

chr19:10114427 G>A

NM_002566.5

p.V272M

c.814G>A

7tm_1

Exome: 0.1% (AC=1422, hom=15)Genome: 0.1% (AC=89, hom=2)11 overlapping SVs

3 papers

chr19:10114574 T>C

NM_002566.5

p.Y321H

c.961T>C

7tm_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 overlapping SVs

2 papers

chr19:10113677 A>T

NM_002566.5

p.K22*

c.64A>T

Exome: 0.0% (AC=24, hom=0)Genome: n/a11 overlapping SVs

2 papers

chr19:10113803 G>A

NM_002566.5

p.A64T

c.190G>A

7tm_1

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=3, hom=0)10 overlapping SVs

2 papers

chr19:10113872 G>T

NM_002566.5

p.A87S

c.259G>T

7tm_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr19:10114109 A>G

NM_002566.5

p.S166G

c.496A>G

7tm_1

Exome: 0.0% (AC=399, hom=5)Genome: 0.2% (AC=342, hom=1)10 overlapping SVs

2 papers

chr19:10114170 A>C

NM_002566.5

p.E186A

c.557A>C

7tm_1

exact variant not in gnomAD10 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."