Varaico: Literature-Extracted Genetic Variants

Gene:P2RX6
Variant:p.W388_R389insGA

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.W388_R389insGA
c.1162_1166ins6
Surrounding Variants
1 paper
NM_005446.5
p.R389G
c.1165A>G
1 paper
NM_005446.5
p.A384_N385insFs
c.1152_1153insCA
1 paper
NM_005446.5
p.A384T
c.1150G>A
1 paper
NM_005446.5
p.S429S
c.1287T>C
1 paper
NM_005446.5
p.Y374*
c.1122T>A
1 paper
NM_005446.5
p.Y374*
c.1122T>G
1 paper
NM_005446.5
p.S440S
c.1320C>T
1 paper
NM_005446.5
p.Y361C
c.1082A>G
1 paper
NM_005446.5
p.L359V
c.1075C>G
2 papers
NM_005446.5
p.G344A
c.1031G>C
1 paper
NM_005446.5
p.G342A
c.1025G>C
1 paper
NM_005446.5
p.V339I
c.1015G>A
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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."