Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.G56insFs

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
5 papers
NM_001060.6
p.G56insFs
c.167dupG
Surrounding Variants
1 paper
NM_001060.6
p.S57P
c.169T>C
1 paper
NM_001060.6
p.G56S
c.166G>A
1 paper
NM_001060.6
p.G55E
c.164G>A
1 paper
NM_001060.6
p.H58N
c.172C>A
1 paper
NM_001060.6
p.T59A
c.175A>G
28 papers
NM_001060.6
p.R60L
c.179G>T
1 paper
NM_001060.6
p.S61S
c.183C>A
1 paper
NM_001060.6
p.V48M
c.142G>A
2 papers
NM_001060.6
p.F66S
c.197T>C
1 paper
NM_001060.6
p.L67P
c.200T>C
1 paper
NM_001060.6
p.L67H
c.200T>A
2 papers
NM_001060.6
p.C68S
c.202T>A
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