Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P23H

TBX5

405 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 56–238UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 5

HGNC Previous Symbol

HOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181486.4
p.P23H
c.68C>A
Surrounding Variants
1 paper
NM_181486.4
p.P23P
c.69C>T
1 paper
NM_181486.4
p.C24S
c.71G>C
1 paper
NM_181486.4
p.P23_C24del1
c.68_70delAGG
1 paper
NM_181486.4
p.L22L
c.64C>T
1 paper
NM_181486.4
p.D25insFs
c.73_74insT
1 paper
NM_181486.4
p.K20I
c.59A>T
1 paper
NM_181486.4
p.K20E
c.58A>G
1 paper
NM_181486.4
p.D18H
c.52G>C
1 paper
NM_181486.4
p.A31A
c.93G>A
1 paper
NM_181486.4
p.L15L
c.43C>T
2 papers
NM_181486.4
p.P14T
c.40C>A
3 papers
NM_181486.4
p.G33R
c.97G>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."