Varaico: Literature-Extracted Genetic Variants

Gene:P2RX6
Variant:p.L44M

P2RX6

147 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed ...

Pfam Domains

P2X_receptoraa 23–376UCSCATP P2X receptor

Gene Aliases

HGNC Name

purinergic receptor P2X 6

HGNC Previous Symbol

P2RXL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005446.5
p.L44M
c.130C>A
Surrounding Variants
1 paper
NM_005446.5
p.Q42K
c.124C>A
1 paper
NM_005446.5
p.Q46*
c.136C>T
1 paper
NM_005446.5
p.Q46H
c.138G>C
1 paper
NM_005446.5
p.Q46H
c.138G>T
1 paper
NM_005446.5
p.A40V
c.119C>T
1 paper
NM_005446.5
p.I49N
c.146T>A
1 paper
NM_005446.5
p.I49I
c.147C>A
1 paper
NM_005446.5
p.V38G
c.113T>G
1 paper
NM_005446.5
p.V51A
c.152T>C
1 paper
NM_005446.5
p.V31V
c.93G>A
1 paper
NM_005446.5
p.K29*
c.85A>T
1 paper
NM_005446.5
p.L22R
c.65T>G
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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."