Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.A27T

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.A27T
c.79G>A
Surrounding Variants
1 paper
NM_001321120.2
p.A29T
c.85G>A
1 paper
NM_001321120.2
p.E23_A24del1
c.68_70delAGG
1 paper
NM_001321120.2
p.G22R
c.64G>A
1 paper
NM_001321120.2
p.G22R
c.64G>C
1 paper
NM_001321120.2
p.G22*
c.64G>T
8 papers
NM_001321120.2
p.A35V
c.104C>T
1 paper
NM_001321120.2
p.A36_A43insFs
c.107_128dup22
1 paper
NM_001321120.2
p.G38insFs
c.113dupG
1 paper
NM_001321120.2
p.L39fs
c.115_116fs
1 paper
NM_001321120.2
p.F14L
c.42C>A
1 paper
NM_001321120.2
p.F14L
c.42C>G
3 papers
NM_001321120.2
p.S40_G49del10
c.118_146del30
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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."