Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.H207_L208Splc

TBX6

99 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 93–273UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 6

HGNC Previous Name

T-box 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004608.4
p.H207_L208Splc
c.621+1G>C
Surrounding Variants
2 papers
NM_004608.4
p.H207_L208Splc
c.621+1G>A
1 paper
NM_004608.4
p.T198P
c.592A>C
1 paper
NM_004608.4
p.H193Y
c.577C>T
1 paper
NM_004608.4
p.V172_M186delFs
c.516_558del43
1 paper
NM_004608.4
p.A180V
c.539C>T
1 paper
NM_004608.4
p.P179S
c.535C>T
1 paper
NM_004608.4
p.S178F
c.533C>T
1 paper
NM_004608.4
p.I174N
c.521T>A
3 papers
NM_004608.4
p.H207_L208Splc
c.622-2A>T
1 paper
NM_004608.4
p.Y173_I174insA
c.517_521ins3
1 paper
NM_004608.4
p.R171H
c.512G>A
1 paper
NM_004608.4
p.L210L
c.630G>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."