Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.I247V

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.I247V
c.739A>G
Surrounding Variants
1 paper
NM_022788.5
p.F246L
c.738T>G
1 paper
NM_022788.5
p.F246L
c.738T>A
4 papers
NM_022788.5
p.C248R
c.742T>C
1 paper
NM_022788.5
p.F246L
c.736T>C
77 papers
NM_022788.5
p.C248C
c.744T>C
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.F254L
c.760T>C
1 paper
NM_022788.5
p.I240fs
c.718_719fs
1 paper
NM_022788.5
p.F254L
c.762T>G
1 paper
NM_022788.5
p.F254L
c.762T>A
1 paper
NM_022788.5
p.V238fs
c.712_713fs
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