Varaico: Literature-Extracted Genetic Variants

Gene:TBX19
Variant:p.V228A

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.V228A
c.683T>C
Surrounding Variants
2 papers
NM_005149.3
p.E230K
c.688G>A
1 paper
NM_005149.3
p.E234*
c.700G>T
1 paper
NM_005149.3
p.R222Splc
c.666-2A>T
2 papers
NM_005149.3
p.H237D
c.709C>G
1 paper
NM_005149.3
p.H237R
c.710A>G
3 papers
NM_005149.3
p.L243Splc
c.727+1G>A
3 papers
NM_005149.3
p.L243Splc
c.727+5G>A
1 paper
NM_005149.3
p.R222Splc
c.665+8A>T
6 papers
NM_005149.3
p.R222Splc
c.665+1G>A
3 papers
NM_005149.3
p.R222K
c.665G>A
3 papers
NM_005149.3
p.R222delFs
c.665delG
2 papers
NM_005149.3
p.R222fs
c.664_665fs
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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."