Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.L257fs

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.L257fs
c.769_770fs
Surrounding Variants
1 paper
NM_001321120.2
p.D256_L257insFs
c.768_769insA
3 papers
NM_001321120.2
p.R261*
c.781C>T
2 papers
NM_001321120.2
p.R261Q
c.782G>A
1 paper
NM_001321120.2
p.S252I
c.755G>T
1 paper
NM_001321120.2
p.Q263insFs
c.788dupA
1 paper
NM_001321120.2
p.Q263delFs
c.789delG
1 paper
NM_001321120.2
p.R250Q
c.749G>A
1 paper
NM_001321120.2
p.S264fs
c.790_791fs
4 papers
NM_001321120.2
p.R250W
c.748C>T
1 paper
NM_001321120.2
p.S264Splc
c.791+1G>A
8 papers
NM_001321120.2
p.G248V
c.743G>T
2 papers
NM_001321120.2
p.A246T
c.736G>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."