Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.E129D

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
1 paper
NM_001060.6
p.E129D
c.387G>C
Surrounding Variants
1 paper
NM_001060.6
p.E129D
c.387G>T
1 paper
NM_001060.6
p.E129V
c.386A>T
1 paper
NM_001060.6
p.E129K
c.385G>A
2 papers
NM_001060.6
p.G133G
c.399T>A
1 paper
NM_001060.6
p.G123A
c.368G>C
1 paper
NM_001060.6
p.F138Y
c.413T>A
1 paper
NM_001060.6
p.A142V
c.425C>T
1 paper
NM_001060.6
p.G116V
c.347G>T
1 paper
NM_001060.6
p.F115del1
c.343_344delGAA
1 paper
NM_001060.6
p.S145S
c.435G>A
1 paper
NM_001060.6
p.Q146K
c.436C>A
1 paper
NM_001060.6
p.A144_S145del0
c.430_435del6
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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."