Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.G118C

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
7 papers
NM_001109878.2
p.G118C
c.352G>T
Surrounding Variants
2 papers
NM_001109878.2
p.A117V
c.350C>T
2 papers
NM_001109878.2
p.R119Splc
c.356+1G>A
1 paper
NM_001109878.2
p.K103N
c.309A>C
1 paper
NM_001109878.2
p.K103N
c.309A>T
2 papers
NM_001109878.2
p.W102C
c.306G>C
2 papers
NM_001109878.2
p.W102C
c.306G>T
1 paper
NM_001109878.2
p.G98E
c.293G>A
1 paper
NM_001109878.2
p.G98R
c.292G>A
1 paper
NM_001109878.2
p.G98R
c.292G>C
1 paper
NM_001109878.2
p.E88D
c.264A>T
1 paper
NM_001109878.2
p.G79D
c.236G>A
1 paper
NM_001109878.2
p.S76S
c.228C>T
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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."