Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.S8S

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.S8S
c.24C>T
Surrounding Variants
1 paper
NM_001321120.2
p.E9K
c.25G>A
7 papers
NM_001321120.2
p.G6A
c.17G>C
2 papers
NM_001321120.2
p.G6S
c.16G>A
4 papers
NM_001321120.2
p.F14_P17delFs
c.40_49del10
1 paper
NM_001321120.2
p.D4delins
c.11delinsA
1 paper
NM_001321120.2
p.F14L
c.40T>C
3 papers
NM_001321120.2
p.F14fs
c.40_41fs
2 papers
NM_001321120.2
p.Q3*
c.7C>T
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.L2L
c.6G>A
1 paper
NM_001321120.2
p.M1insFs
c.2dupT
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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."