Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R

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
1–12 of 131 variants
35 papers
NM_001060.6
p.Y308Y
c.924T>C
28 papers
NM_001060.6
p.R60L
c.179G>T
17 papers
NM_001060.6
p.D304N
c.910G>A
8 papers
NM_001060.6
p.I265I
c.795C>T
7 papers
NM_001060.6
p.W29C
c.87G>T
7 papers
NM_001060.6
p.W29C
c.87G>C
6 papers
NM_001060.6
p.A160T
c.478G>A
5 papers
NM_001060.6
p.G56insFs
c.167dupG
3 papers
NM_001060.6
p.N42S
c.125A>G
3 papers
NM_001060.6
p.V80E
c.239T>A
2 papers
NM_001060.6
p.L44P
c.131T>C
2 papers
NM_001060.6
p.F66S
c.197T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."