Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.E38_Q42delFs

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.E38_Q42delFs
c.112_124del13
Surrounding Variants
1 paper
NM_005149.3
p.T37M
c.110C>T
1 paper
NM_005149.3
p.E38*
c.112G>T
1 paper
NM_005149.3
p.E32fs
c.94_95fs
1 paper
NM_005149.3
p.E32delFs
c.95delA
1 paper
NM_005149.3
p.R31insFs
c.92dupG
6 papers
NM_005149.3
p.Q28*
c.82C>T
3 papers
NM_005149.3
p.R53delFs
c.158_159delGA
1 paper
NM_005149.3
p.Q52H
c.156G>C
1 paper
NM_005149.3
p.Q52H
c.156G>T
3 papers
NM_005149.3
p.R53fs
c.157_158fs
1 paper
NM_005149.3
p.V22delFs
c.64delG
1 paper
NM_005149.3
p.N21D
c.61A>G
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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."