Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.G133C

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.G133C
c.397G>T
Surrounding Variants
5 papers
NM_181486.4
p.R134C
c.400C>T
2 papers
NM_181486.4
p.P132S
c.394C>T
2 papers
NM_181486.4
p.R134insFs
c.401_402insC
1 paper
NM_181486.4
p.K126_R134del0
c.376_402del27
1 paper
NM_181486.4
p.L135R
c.404T>G
1 paper
NM_181486.4
p.L135L
c.405G>C
6 papers
NM_181486.4
p.Y136*
c.408C>G
6 papers
NM_181486.4
p.Y136*
c.408C>A
2 papers
NM_181486.4
p.V137L
c.409G>T
2 papers
NM_181486.4
p.V137L
c.409G>C
1 paper
NM_181486.4
p.V137M
c.409G>A
1 paper
NM_181486.4
p.V137A
c.410T>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."