Varaico: Literature-Extracted Genetic Variants

Gene:P2RX3
Variant:p.S269F

P2RX3

201 papers

RefSeq Summary

This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion ...

Pfam Domains

P2X_receptoraa 8–360UCSCATP P2X receptor

Gene Aliases

HGNC Name

purinergic receptor P2X 3

HGNC Alias Symbol

P2X3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002559.5
p.S269F
c.806C>T
Surrounding Variants
2 papers
NM_002559.5
p.S269A
c.805T>G
1 paper
NM_002559.5
p.S267_V268insFs
c.801_802insA
3 papers
NM_002559.5
p.D266A
c.797A>C
2 papers
NM_002559.5
p.S275A
c.823T>G
1 paper
NM_002559.5
p.S275C
c.824C>G
1 paper
NM_002559.5
p.Y278N
c.832T>A
1 paper
NM_002559.5
p.N279N
c.837C>T
1 paper
NM_002559.5
p.F280C
c.839T>G
3 papers
NM_002559.5
p.D254D
c.762C>T
1 paper
NM_002559.5
p.L249L
c.747G>A
1 paper
NM_002559.5
p.D248N
c.742G>A
1 paper
NM_002559.5
p.W245*
c.734G>A
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