Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.E400D

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_018488.3
p.E400D
c.1200G>T
Surrounding Variants
1 paper
NM_018488.3
p.E400D
c.1200G>C
3 papers
NM_018488.3
p.E400K
c.1198G>A
3 papers
NM_001321120.2
p.A403T
c.1207G>A
1 paper
NM_018488.3
p.G403R
c.1207G>A
1 paper
NM_018488.3
p.G403R
c.1207G>C
1 paper
NM_001321120.2
p.G407W
c.1219G>T
1 paper
NM_018488.3
p.S395P
c.1183T>C
2 papers
NM_001321120.2
p.Y395H
c.1183T>C
1 paper
NM_001321120.2
p.D409D
c.1227C>T
1 paper
NM_018488.3
p.E390fs
c.1168_1169fs
1 paper
NM_018488.3
p.R389fs
c.1165_1166fs
1 paper
NM_018488.3
p.P388_R389delFs
c.1164_1165delCA
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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."