Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.E187K

TBX22

143 papers

RefSeq Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developm...

Pfam Domains

T-boxaa 94–283UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 22

HGNC Previous Symbols

CPX; CLPA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_001109878.2
p.E187K
c.559G>A
Surrounding Variants
1 paper
NM_001109878.2
p.S185L
c.554C>T
1 paper
NM_001109878.2
p.C184F
c.551G>T
5 papers
NM_001109878.2
p.P183L
c.548C>T
1 paper
NM_001109878.2
p.R191W
c.571C>T
1 paper
NM_001109878.2
p.Q192Q
c.576G>A
2 papers
NM_001109878.2
p.I194_S195ins1
c.582_583insCAG
1 paper
NM_001109878.2
p.S195insFs
c.585dupC
1 paper
NM_001109878.2
p.Y177C
c.530A>G
1 paper
NM_001109878.2
p.I173V
c.517A>G
1 paper
NM_001109878.2
p.D168E
c.504C>A
1 paper
NM_001109878.2
p.D168E
c.504C>G
1 paper
NM_001109878.2
p.D168A
c.503A>C
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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."