Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.H245N

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.H245N
c.733C>A
Surrounding Variants
1 paper
NM_181486.4
p.L244L
c.732G>T
2 papers
NM_181486.4
p.M242_L244delFs
c.726_730del5
2 papers
NM_181486.4
p.H245H
c.735C>T
1 paper
NM_181486.4
p.L244insFs
c.730_731insT
1 paper
NM_181486.4
p.E243delFs
c.728_729delCT
3 papers
NM_181486.4
p.E243delFs
c.727delC
1 paper
NM_181486.4
p.M242I
c.726G>T
1 paper
NM_181486.4
p.M242I
c.726G>C
1 paper
NM_181486.4
p.M242I
c.726G>A
1 paper
NM_181486.4
p.M250V
c.748A>G
1 paper
NM_181486.4
p.S239insFs
c.716_717insG
1 paper
NM_181486.4
p.S239fs
c.715_716fs
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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."