Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.L378fs

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.L378fs
c.1132_1133fs
Surrounding Variants
1 paper
NM_018488.3
p.L378_S384delFs
c.1133_1152del20
1 paper
NM_001321120.2
p.Y383H
c.1147T>C
3 papers
NM_018488.3
p.Y382S
c.1145A>C
1 paper
NM_018488.3
p.Y373*
c.1119C>A
1 paper
NM_018488.3
p.Y373*
c.1119C>G
1 paper
NM_018488.3
p.C383R
c.1147T>C
2 papers
NM_001321120.2
p.P373P
c.1119C>A
2 papers
NM_001321120.2
p.P373P
c.1119C>G
5 papers
NM_018488.3
p.P372fs
c.1114_1115fs
NM_001321120.2
p.P373fs
c.1117_1118fs
1 paper
NM_018488.3
p.P372insFs
c.1115dupC
5 papers
NM_001321120.2
p.P372fs
c.1114_1115fs
NM_018488.3
p.P371fs
c.1111_1112fs
3 papers
NM_001321120.2
p.P371fs
c.1111_1112fs
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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."