Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.E201*

TBX19

130 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 43–218UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 19

HGNC Alias Symbols

dj747L4.1; TPIT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005149.3
p.E201*
c.601G>T
Surrounding Variants
1 paper
NM_005149.3
p.E201V
c.602A>T
3 papers
NM_005149.3
p.T195I
c.584C>T
6 papers
NM_005149.3
p.T195A
c.583A>G
1 paper
NM_005149.3
p.A193V
c.578C>T
1 paper
NM_005149.3
p.I192fs
c.574_575fs
1 paper
NM_005149.3
p.I192_A193delFs
c.574_577del4
1 paper
NM_005149.3
p.F191_I192delFs
c.573_576del4
1 paper
NM_005149.3
p.Q190K
c.568C>A
1 paper
NM_005149.3
p.Q190*
c.568C>T
1 paper
NM_005149.3
p.T189I
c.566C>T
1 paper
NM_005149.3
p.E188K
c.562G>A
1 paper
NM_005149.3
p.V181delFs
c.543delA
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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."