Varaico: Literature-Extracted Genetic Variants

Gene:TBX4

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
1–12 of 303 variants
8 papers
NM_001321120.2
p.A35V
c.104C>T
8 papers
NM_001321120.2
p.E86Q
c.256G>C
8 papers
NM_001321120.2
p.G248V
c.743G>T
8 papers
NM_001321120.2
p.P372insFs
c.1115dupC
7 papers
NM_001321120.2
p.G6A
c.17G>C
7 papers
NM_001321120.2
p.R340*
c.1018C>T
6 papers
NM_001321120.2
p.Q62*
c.184C>T
5 papers
NM_001321120.2
p.W134Splc
c.402-8G>A
5 papers
NM_001321120.2
p.N175_N176delFs
c.524_527del4
5 papers
NM_001321120.2
p.V218M
c.652G>A
5 papers
NM_001321120.2
p.A314V
c.941C>T
5 papers
NM_001321120.2
p.A341Splc
c.1021+1G>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."