Varaico: Literature-Extracted Genetic Variants

Gene:P2RY1
Variant:p.C296R

P2RY1

210 papers

RefSeq Summary

The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for v...

Pfam Domains

7tm_1aa 68–324UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

purinergic receptor P2Y1

HGNC Alias Symbols

P2Y1; SARCC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002563.5
p.C296R
c.886T>C
Surrounding Variants
1 paper
NM_002563.5
p.C296Y
c.887G>A
1 paper
NM_002563.5
p.N299S
c.896A>G
1 paper
NM_002563.5
p.P293_A294del2
c.877_881del6
1 paper
NM_002563.5
p.T292S
c.874A>T
2 papers
NM_002563.5
p.D300A
c.899A>C
1 paper
NM_002563.5
p.Q291Q
c.873G>A
1 paper
NM_002563.5
p.T292insFs
c.874_875insA
1 paper
NM_002563.5
p.R301K
c.902G>A
2 papers
NM_002563.5
p.D289A
c.866A>C
1 paper
NM_002563.5
p.Y303F
c.908A>T
1 paper
NM_002563.5
p.A304V
c.911C>T
3 papers
NM_002563.5
p.R287Q
c.860G>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."