Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.S219P

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.S219P
c.655T>C
Surrounding Variants
1 paper
NM_022788.5
p.Y220C
c.659A>G
1 paper
NM_022788.5
p.T223R
c.668C>G
1 paper
NM_022788.5
p.R224S
c.672G>T
1 paper
NM_022788.5
p.R224S
c.672G>C
3 papers
NM_022788.5
p.V207A
c.620T>C
1 paper
NM_022788.5
p.V238fs
c.712_713fs
1 paper
NM_022788.5
p.V238I
c.712G>A
1 paper
NM_022788.5
p.W199*
c.596G>A
1 paper
NM_022788.5
p.I240fs
c.718_719fs
1 paper
NM_022788.5
p.I240N
c.719T>A
1 paper
NM_022788.5
p.I240fs
c.718_719fs
1 paper
NM_022788.5
p.Y192C
c.575A>G
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