Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.D342Y

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
1 paper
NM_001321120.2
p.D342Y
c.1024G>T
Surrounding Variants
1 paper
NM_018488.3
p.G342C
c.1024G>T
1 paper
NM_018488.3
p.R352*
c.1054C>T
1 paper
NM_018488.3
p.R352L
c.1055G>T
1 paper
NM_001321120.2
p.Y355_L356insA
c.1063_1067ins3
1 paper
NM_018488.3
p.Y354*
c.1062T>A
1 paper
NM_018488.3
p.Y354*
c.1062T>G
1 paper
NM_018488.3
p.P358delFs
c.1074delC
2 papers
NM_018488.3
p.A357V
c.1070C>T
1 paper
NM_018488.3
p.S359fs
c.1075_1076fs
1 paper
NM_018488.3
p.S360_D364delFs
c.1078_1090del13
1 paper
NM_001321120.2
p.S361S
c.1083G>C
1 paper
NM_018488.3
p.H365R
c.1094A>G
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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."