Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.A92A

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
4 papers
NM_001321120.2
p.A92A
c.276T>G
Surrounding Variants
2 papers
NM_001321120.2
p.G93D
c.278G>A
1 paper
NM_001321120.2
p.R94Splc
c.281+1G>T
4 papers
NM_001321120.2
p.E86K
c.256G>A
8 papers
NM_001321120.2
p.E86Q
c.256G>C
4 papers
NM_001321120.2
p.G84fs
c.250_251fs
1 paper
NM_001321120.2
p.A83A
c.249G>A
2 papers
NM_001321120.2
p.G84delFs
c.251delG
1 paper
NM_001321120.2
p.E82K
c.244G>A
3 papers
NM_001321120.2
p.W77*
c.231G>A
3 papers
NM_001321120.2
p.W77*
c.230G>A
4 papers
NM_001321120.2
p.W77R
c.229T>A
4 papers
NM_001321120.2
p.W77R
c.229T>C
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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."