Varaico: Literature-Extracted Genetic Variants

Gene:P2RX6
Variant:p.N210I

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.N210I
c.629A>T
Surrounding Variants
1 paper
NM_005446.5
p.S212A
c.634T>G
1 paper
NM_005446.5
p.S212C
c.635C>G
1 paper
NM_005446.5
p.Y230H
c.688T>C
1 paper
NM_005446.5
p.S186Splc
c.557+1G>A
4 papers
NM_005446.5
p.R242H
c.725G>A
NM_001159554.2
p.R216H
c.647G>A
1 paper
NM_005446.5
p.W176delFs
c.527_528delGG
1 paper
NM_005446.5
p.V247M
c.739G>A
1 paper
NM_005446.5
p.G251A
c.752G>C
3 papers
NM_005446.5
p.F254F
c.762C>T
1 paper
NM_005446.5
p.E255A
c.764A>C
1 paper
NM_005446.5
p.Q160H
c.480G>C
1 paper
NM_005446.5
p.G155fs
c.463_464fs
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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."