Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.L293P

P2RY12

257 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 42–298UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

purinergic receptor P2Y12

HGNC Alias Symbols

P2Y12; SP1999; HORK3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022788.5
p.L293P
c.878T>C
Surrounding Variants
1 paper
NM_022788.5
p.L289*
c.866T>A
1 paper
NM_022788.5
p.Y298H
c.892T>C
1 paper
NM_022788.5
p.L286V
c.856T>G
1 paper
NM_022788.5
p.W285R
c.853T>C
1 paper
NM_022788.5
p.W285R
c.853T>A
1 paper
NM_022788.5
p.T283I
c.848C>T
1 paper
NM_022788.5
p.E281D
c.843G>T
1 paper
NM_022788.5
p.E281D
c.843G>C
1 paper
NM_022788.5
p.E281G
c.842A>G
1 paper
NM_022788.5
p.E281A
c.842A>C
2 papers
NM_022788.5
p.V279M
c.835G>A
1 paper
NM_022788.5
p.S308S
c.924C>T
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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."