Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.D110E

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.D110E
c.330C>A
Surrounding Variants
1 paper
NM_181486.4
p.D110E
c.330C>G
18 papers
NM_181486.4
p.D111Y
c.331G>T
1 paper
NM_181486.4
p.D110N
c.328G>A
1 paper
NM_181486.4
p.A109T
c.325G>A
1 paper
NM_181486.4
p.P108insFs
c.323dupC
1 paper
NM_181486.4
p.H112delFs
c.336delG
1 paper
NM_181486.4
p.R113I
c.338G>T
3 papers
NM_181486.4
p.R113K
c.338G>A
4 papers
NM_181486.4
p.P108T
c.322C>A
1 paper
NM_181486.4
p.Y114H
c.340T>C
1 paper
NM_181486.4
p.V107E
c.320T>A
1 paper
NM_181486.4
p.Y114*
c.342C>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."