Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.L71fs

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.L71fs
c.211_212fs
Surrounding Variants
1 paper
NM_001321120.2
p.L71delFs
c.211delC
1 paper
NM_001321120.2
p.G70insFs
c.210dupG
1 paper
NM_001321120.2
p.K68_G70del3
c.202_209del9
4 papers
NM_001321120.2
p.W77R
c.229T>A
4 papers
NM_001321120.2
p.W77R
c.229T>C
3 papers
NM_001321120.2
p.W77*
c.230G>A
3 papers
NM_001321120.2
p.W77*
c.231G>A
1 paper
NM_001321120.2
p.E82K
c.244G>A
2 papers
NM_001321120.2
p.G84delFs
c.251delG
1 paper
NM_001321120.2
p.A83A
c.249G>A
1 paper
NM_001321120.2
p.Q62_T63Splc
c.187-15C>T
4 papers
NM_001321120.2
p.G84fs
c.250_251fs
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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."