Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.R284C

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.R284C
c.850C>T
Surrounding Variants
1 paper
NM_001060.6
p.A275A
c.825C>T
1 paper
NM_001060.6
p.L294M
c.880T>A
1 paper
NM_001060.6
p.N272D
c.814A>G
1 paper
NM_001060.6
p.T298T
c.894C>A
2 papers
NM_001060.6
p.W299L
c.896G>T
1 paper
NM_001060.6
p.Q267fs
c.799_800fs
1 paper
NM_001060.6
p.Q267insFs
c.800dupA
8 papers
NM_001060.6
p.I265I
c.795C>T
1 paper
NM_001060.6
p.L303P
c.908T>C
2 papers
NM_001060.6
p.D304H
c.910G>C
17 papers
NM_001060.6
p.D304N
c.910G>A
35 papers
NM_001060.6
p.Y308Y
c.924T>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."