Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.L214P

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
6 papers
NM_001109878.2
p.L214P
c.641T>C
Surrounding Variants
1 paper
NM_001109878.2
p.I212M
c.636C>G
1 paper
NM_001109878.2
p.Y220C
c.659A>G
4 papers
NM_001109878.2
p.P222delFs
c.664delC
1 paper
NM_001109878.2
p.P242H
c.725C>A
1 paper
NM_001109878.2
p.P242L
c.725C>T
1 paper
NM_001109878.2
p.T248S
c.742A>T
1 paper
NM_001109878.2
p.S250F
c.749C>T
1 paper
NM_001109878.2
p.T254I
c.761C>T
5 papers
NM_001109878.2
p.T260M
c.779C>T
1 paper
NM_001109878.2
p.A261D
c.782C>A
6 papers
NM_001109878.2
p.N264Y
c.790A>T
1 paper
NM_001109878.2
p.Q266P
c.797A>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."