Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.L40F

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.L40F
c.118C>T
Surrounding Variants
1 paper
NM_022788.5
p.L40R
c.119T>G
1 paper
NM_022788.5
p.G39*
c.115G>T
1 paper
NM_022788.5
p.N43Y
c.127A>T
1 paper
NM_022788.5
p.V34L
c.100G>C
3 papers
NM_022788.5
p.V34I
c.100G>A
1 paper
NM_022788.5
p.A46V
c.137C>T
1 paper
NM_022788.5
p.L31L
c.93C>T
1 paper
NM_022788.5
p.I49T
c.146T>C
1 paper
NM_022788.5
p.R54W
c.160C>T
1 paper
NM_022788.5
p.R54R
c.160C>A
1 paper
NM_022788.5
p.K22N
c.66A>C
1 paper
NM_022788.5
p.D20delFs
c.58_59delTC
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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."