Varaico: Literature-Extracted Genetic Variants

Gene:TBXA2R
Variant:p.C183Y

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.C183Y
c.548G>A
Surrounding Variants
1 paper
NM_001060.6
p.C183S
c.548G>C
1 paper
NM_001060.6
p.C183S
c.547T>A
1 paper
NM_001060.6
p.F184Y
c.551T>A
1 paper
NM_001060.6
p.T186S
c.556A>T
1 paper
NM_001060.6
p.T186A
c.556A>G
1 paper
NM_001060.6
p.T186T
c.558G>A
1 paper
NM_001060.6
p.V176E
c.527T>A
1 paper
NM_001060.6
p.E190A
c.569A>C
1 paper
NM_001060.6
p.E190D
c.570G>T
1 paper
NM_001060.6
p.E190D
c.570G>C
1 paper
NM_001060.6
p.S191A
c.571T>G
1 paper
NM_001060.6
p.S191T
c.571T>A
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