Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P2RX2

Variant:p.P177A

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

chr12:132620071 C>G

NM_170682.4

p.P177A

c.529C>G

P2X_receptor

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

Surrounding Variants

1 paper

chr12:132620071 C>A

NM_170682.4

p.P177T

c.529C>A

P2X_receptor

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)10 overlapping SVs

1 paper

chr12:132620072 C>G

NM_170682.4

p.P177R

c.530C>G

P2X_receptor

Exome: n/aGenome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr12:132620072 C>T

NM_170682.4

p.P177L

c.530C>T

P2X_receptor

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr12:132620075 T>G

NM_170682.4

p.V178G

c.533T>G

P2X_receptor

exact variant not in gnomAD10 overlapping SVs

1 paper

chr12:132620062 G>A

NM_170682.4

p.G174S

c.520G>A

P2X_receptor

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr12:132620080 G>A

NM_170682.4

p.D180N

c.538G>A

P2X_receptor

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=3, hom=0)10 overlapping SVs

1 paper

chr12:132620083 G>A

NM_170682.4

p.G181R

c.541G>A

P2X_receptor

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

1 paper

chr12:132620083 G>C

NM_170682.4

p.G181R

c.541G>C

P2X_receptor

Exome: n/aGenome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr12:132620086 G>A

NM_170682.4

p.A182T

c.544G>A

P2X_receptor

exact variant not in gnomAD10 overlapping SVs

1 paper

chr12:132620053 G>A

NM_170682.4

p.E171K

c.511G>A

P2X_receptor

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr12:132620051 G>A

NM_170682.4

p.C170Y

c.509G>A

P2X_receptor

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

1 paper

chr12:132620092 G>A

NM_170682.4

p.V184I

c.550G>A

P2X_receptor

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

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."