Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.N42S

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
3 papers
NM_001060.6
p.N42S
c.125A>G
Surrounding Variants
1 paper
NM_001060.6
p.L43L
c.129G>C
2 papers
NM_001060.6
p.L44P
c.131T>C
1 paper
NM_001060.6
p.V37G
c.110T>G
1 paper
NM_001060.6
p.V37A
c.110T>C
1 paper
NM_001060.6
p.V48M
c.142G>A
1 paper
NM_001060.6
p.F34L
c.102C>G
1 paper
NM_001060.6
p.F34L
c.102C>A
1 paper
NM_001060.6
p.F34L
c.100T>C
7 papers
NM_001060.6
p.W29C
c.87G>T
7 papers
NM_001060.6
p.W29C
c.87G>C
1 paper
NM_001060.6
p.W29*
c.87G>A
1 paper
NM_001060.6
p.G55E
c.164G>A
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