Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.E306*

TBX4

137 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 69–251UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 4

HGNC Previous Name

T-box 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001321120.2
p.E306*
c.916G>T
Surrounding Variants
1 paper
NM_001321120.2
p.N307N
c.921C>T
1 paper
NM_001321120.2
p.Q301*
c.901C>T
1 paper
NM_001321120.2
p.S311*
c.932C>A
1 paper
NM_001321120.2
p.S311*
c.932C>G
2 papers
NM_001321120.2
p.S311L
c.932C>T
1 paper
NM_001321120.2
p.Q312*
c.934C>T
1 paper
NM_001321120.2
p.L313L
c.939C>T
1 paper
NM_001321120.2
p.A314T
c.940G>A
5 papers
NM_001321120.2
p.A314V
c.941C>T
1 paper
NM_001321120.2
p.T296fs
c.886_887fs
1 paper
NM_001321120.2
p.P316Q
c.947C>A
2 papers
NM_001321120.2
p.P316L
c.947C>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."