Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.H187Q

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
7 papers
NM_022788.5
p.H187Q
c.561T>G
Surrounding Variants
7 papers
NM_022788.5
p.H187Q
c.561T>A
1 paper
NM_022788.5
p.N191Y
c.571A>T
1 paper
NM_022788.5
p.L184I
c.550C>A
1 paper
NM_022788.5
p.Y192C
c.575A>G
1 paper
NM_022788.5
p.F182V
c.544T>G
1 paper
NM_022788.5
p.K179delFs
c.537delT
1 paper
NM_022788.5
p.K179fs
c.535_536fs
1 paper
NM_022788.5
p.L178R
c.533T>G
1 paper
NM_022788.5
p.W199*
c.596G>A
12 papers
NM_022788.5
p.K174E
c.520A>G
1 paper
NM_022788.5
p.D169A
c.506A>C
1 paper
NM_022788.5
p.R168T
c.503G>C
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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."