Varaico: Literature-Extracted Genetic Variants

Gene:TBXAS1
Variant:p.E92D

TBXAS1

112 papers

RefSeq Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cho...

Pfam Domains

p450aa 44–130UCSCCytochrome P450
p450aa 44–308UCSCCytochrome P450
p450aa 313–530UCSCCytochrome P450

Gene Aliases

HGNC Name

thromboxane A synthase 1

HGNC Alias Symbols

CYP5A1; THAS; TXS; TXAS; TS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001061.7
p.E92D
c.276G>T
Surrounding Variants
2 papers
NM_001061.7
p.E92D
c.276G>C
1 paper
NM_001061.7
p.V89A
c.266T>C
1 paper
NM_001061.7
p.V89insFs
c.265_266insC
1 paper
NM_001061.7
p.I88T
c.263T>C
1 paper
NM_001061.7
p.Q98fs
c.292_293fs
2 papers
NM_001061.7
p.L82P
c.245T>C
1 paper
NM_001061.7
p.Y81H
c.241T>C
1 paper
NM_001061.7
p.R110K
c.329G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."