Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.R69fs

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.R69fs
c.205_206fs
Surrounding Variants
4 papers
NM_005149.3
p.R69W
c.205C>T
2 papers
NM_005149.3
p.R69Q
c.206G>A
2 papers
NM_005149.3
p.R68Splc
c.204-3T>C
1 paper
NM_005149.3
p.I76S
c.227T>G
1 paper
NM_005149.3
p.S77G
c.229A>G
1 paper
NM_005149.3
p.G80R
c.238G>A
1 paper
NM_005149.3
p.G80R
c.238G>C
1 paper
NM_005149.3
p.G80_D82delFs
c.240_246del7
1 paper
NM_005149.3
p.L81fs
c.241_242fs
1 paper
NM_005149.3
p.R68Splc
c.204-37G>A
1 paper
NM_005149.3
p.D82E
c.246C>A
1 paper
NM_005149.3
p.D82E
c.246C>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."