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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P2RX2

Variant:p.V35V

P2RX2

235 papers

RefSeq Summary

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from n...

Pfam Domains

P2X_receptoraa 26–335UCSCATP P2X receptor

Gene Aliases

HGNC Name

purinergic receptor P2X 2

HGNC Previous Symbol

DFNA41

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:132618921 G>A

NM_170682.4

p.V35V

c.105G>A

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

Surrounding Variants

1 paper

chr12:132618920 T>A

NM_170682.4

p.V35E

c.104T>A

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr12:132618920 T>C

NM_170682.4

p.V35A

c.104T>C

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr12:132618919 G>C

NM_170682.4

p.V35L

c.103G>C

P2X_receptor

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

1 paper

chr12:132618919 G>T

NM_170682.4

p.V35L

c.103G>T

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

2 papers

chr12:132618923 T>C

NM_170682.4

p.V36A

c.107T>C

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr12:132618913 G>A

NM_170682.4

p.V33M

c.97G>A

P2X_receptor

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr12:132618912 G>A

NM_170682.4

p.K32K

c.96G>A

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr12:132618912 G>C

NM_170682.4

p.K32N

c.96G>C

P2X_receptor

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:132618911 A>G

NM_170682.4

p.K32R

c.95A>G

P2X_receptor

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr12:132618911 A>T

NM_170682.4

p.K32M

c.95A>T

P2X_receptor

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

1 paper

chr12:132618931 C>T

NM_170682.4

p.R39W

c.115C>T

P2X_receptor

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr12:132618934 C>T

NM_170682.4

p.R40C

c.118C>T

P2X_receptor

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)15 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."