Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.S161S

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.S161S
c.483C>T
Surrounding Variants
9 papers
NM_004608.4
p.G162S
c.484G>A
2 papers
NM_004608.4
p.W158_E159ins0
c.473_475dupGGG
1 paper
NM_004608.4
p.R157insFs
c.469_470ins4
3 papers
NM_004608.4
p.R157fs
c.469_470fs
2 papers
NM_004608.4
p.R156_R157insFs
c.466_469dup4
3 papers
NM_004608.4
p.R167C
c.499C>T
1 paper
NM_004608.4
p.G155V
c.464G>T
1 paper
NM_004608.4
p.L168L
c.504G>A
1 paper
NM_004608.4
p.R171H
c.512G>A
1 paper
NM_004608.4
p.Y173_I174insA
c.517_521ins3
5 papers
NM_004608.4
p.R150H
c.449G>A
1 paper
NM_004608.4
p.R150C
c.448C>T
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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."