Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.R153Splc

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
5 papers
NM_001109878.2
p.R153Splc
c.458+1G>A
Surrounding Variants
1 paper
NM_001109878.2
p.R153Splc
c.458+1G>T
1 paper
NM_001109878.2
p.R151H
c.452G>A
7 papers
NM_001109878.2
p.R151L
c.452G>T
1 paper
NM_001109878.2
p.R151C
c.451C>T
1 paper
NM_001109878.2
p.K150Q
c.448A>C
1 paper
NM_001109878.2
p.V144A
c.431T>C
1 paper
NM_001109878.2
p.H139_V140insFs
c.415_418dup4
1 paper
NM_001303475.1
p.K16K
c.48G>A
1 paper
NM_001109878.2
p.G135V
c.404G>T
1 paper
NM_001109878.2
p.P134R
c.401C>G
1 paper
NM_001109878.2
p.K128K
c.384G>A
1 paper
NM_001109878.2
p.V127A
c.380T>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."