Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.Y308Y

TBXA2R

166 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results i...

Pfam Domains

7tm_1aa 41–308UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

thromboxane A2 receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
35 papers
NM_001060.6
p.Y308Y
c.924T>C
Surrounding Variants
2 papers
NM_001060.6
p.D304H
c.910G>C
17 papers
NM_001060.6
p.D304N
c.910G>A
1 paper
NM_001060.6
p.L303P
c.908T>C
2 papers
NM_001060.6
p.W299L
c.896G>T
1 paper
NM_001060.6
p.T298T
c.894C>A
1 paper
NM_001060.6
p.Q320*
c.958C>T
1 paper
NM_001060.6
p.L294M
c.880T>A
1 paper
NM_001060.6
p.S324_R328del0
c.971_982del12
1 paper
NM_001060.6
p.Q333*
c.997C>T
1 paper
NM_001060.6
p.R284C
c.850C>T
1 paper
NM_001060.6
p.Q335R
c.1004A>G
1 paper
NM_001060.6
p.R339G
c.1015C>G
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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."