Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.H125Y

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
4 papers
NM_005149.3
p.H125Y
c.373C>T
Surrounding Variants
6 papers
NM_005149.3
p.P126L
c.377C>T
1 paper
NM_005149.3
p.P129delFs
c.387delC
15 papers
NM_005149.3
p.S128F
c.383C>T
3 papers
NM_005149.3
p.G132V
c.395G>T
1 paper
NM_005149.3
p.H134_W135insFs
c.402_403insC
1 paper
NM_005149.3
p.H134R
c.401A>G
2 papers
NM_005149.3
p.S141F
c.422C>T
1 paper
NM_005149.3
p.F142delFs
c.426delC
1 paper
NM_005149.3
p.S143fs
c.427_428fs
5 papers
NM_005149.3
p.K146R
c.437A>G
1 paper
NM_005149.3
p.W101*
c.303G>A
3 papers
NM_005149.3
p.W101*
c.302G>A
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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."