Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.G238S

TBX5

405 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 56–238UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 5

HGNC Previous Symbol

HOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181486.4
p.G238S
c.712G>A
Surrounding Variants
1 paper
NM_181486.4
p.G238A
c.713G>C
8 papers
NM_181486.4
p.R237P
c.710G>C
44 papers
NM_181486.4
p.R237Q
c.710G>A
1 paper
NM_181486.4
p.G238insFs
c.713dupG
1 paper
NM_181486.4
p.S239fs
c.715_716fs
44 papers
NM_181486.4
p.R237W
c.709C>T
1 paper
NM_181486.4
p.S239insFs
c.716_717insG
1 paper
NM_181486.4
p.G235E
c.704G>A
1 paper
NM_181486.4
p.M242I
c.726G>T
1 paper
NM_181486.4
p.M242I
c.726G>C
1 paper
NM_181486.4
p.M242I
c.726G>A
1 paper
NM_181486.4
p.A233D
c.698C>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."