Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.S218S

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.S218S
c.654C>T
Surrounding Variants
1 paper
NM_001060.6
p.V217I
c.649G>A
1 paper
NM_001060.6
p.T216A
c.646A>G
1 paper
NM_001060.6
p.C223S
c.667T>A
1 paper
NM_001060.6
p.C223S
c.668G>C
1 paper
NM_001060.6
p.H227L
c.680A>T
2 papers
NM_001060.6
p.S207L
c.620C>T
2 papers
NM_001060.6
p.S201A
c.601T>G
1 paper
NM_001060.6
p.S201T
c.601T>A
1 paper
NM_001060.6
p.P236fs
c.706_707fs
1 paper
NM_001060.6
p.F200Y
c.599T>A
1 paper
NM_001060.6
p.F196Y
c.587T>A
1 paper
NM_001060.6
p.E242G
c.725A>G
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