Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R286*

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
19 papers
NM_005149.3
p.R286*
c.856C>T
Surrounding Variants
1 paper
NM_005149.3
p.S283L
c.848C>T
1 paper
NM_005149.3
p.R289W
c.865C>T
1 paper
NM_005149.3
p.R289Q
c.866G>A
1 paper
NM_005149.3
p.E280D
c.840G>C
1 paper
NM_005149.3
p.E280D
c.840G>T
2 papers
NM_005149.3
p.E280delFs
c.840delG
1 paper
NM_005149.3
p.E280fs
c.838_839fs
2 papers
NM_005149.3
p.Y293_P294insC
c.877_881ins3
1 paper
NM_005149.3
p.P273S
c.817C>T
1 paper
NM_005149.3
p.A265insFs
c.794_795insGC
2 papers
NM_005149.3
p.N261fs
c.781_782fs
2 papers
NM_005149.3
p.N261fs
c.781_782fs
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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."