Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.G123A

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.G123A
c.368G>C
Surrounding Variants
1 paper
NM_001060.6
p.E129K
c.385G>A
1 paper
NM_001060.6
p.E129V
c.386A>T
1 paper
NM_001060.6
p.E129D
c.387G>T
1 paper
NM_001060.6
p.E129D
c.387G>C
1 paper
NM_001060.6
p.G116V
c.347G>T
1 paper
NM_001060.6
p.F115del1
c.343_344delGAA
2 papers
NM_001060.6
p.G133G
c.399T>A
1 paper
NM_001060.6
p.M112L
c.334A>T
1 paper
NM_001060.6
p.M112L
c.334A>C
1 paper
NM_001060.6
p.V111I
c.331G>A
2 papers
NM_001060.6
p.V110A
c.329T>C
1 paper
NM_001060.6
p.F138Y
c.413T>A
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