Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.A52T

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
1 paper
NM_001109878.2
p.A52T
c.154G>A
Surrounding Variants
1 paper
NM_001109878.2
p.A51T
c.151G>A
1 paper
NM_001109878.2
p.K54R
c.161A>G
3 papers
NM_001109878.2
p.E56*
c.166G>T
1 paper
NM_001109878.2
p.E56_P57delins
c.168_169delinsAG
1 paper
NM_001109878.2
p.P57A
c.169C>G
1 paper
NM_001109878.2
p.E59Splc
c.175+1G>A
1 paper
NM_001109878.2
p.E43V
c.128A>T
6 papers
NM_001109878.2
p.G40R
c.118G>C
1 paper
NM_001109878.2
p.K39R
c.116A>G
1 paper
NM_001109878.2
p.K38R
c.113A>G
1 paper
NM_001109878.2
p.E31Q
c.91G>C
1 paper
NM_001109878.2
p.A30E
c.89C>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."