Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.D118Y

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.D118Y
c.352G>T
Surrounding Variants
1 paper
NM_181486.4
p.D118G
c.353A>G
1 paper
NM_181486.4
p.A117S
c.349G>T
1 paper
NM_181486.4
p.A117T
c.349G>A
2 papers
NM_181486.4
p.D118del1
c.352_353delATC
1 paper
NM_181486.4
p.Y114*
c.342C>G
3 papers
NM_181486.4
p.Y114*
c.342C>A
2 papers
NM_181486.4
p.W121Splc
c.362+1G>T
1 paper
NM_181486.4
p.W121Splc
c.362+2T>C
1 paper
NM_181486.4
p.Y114H
c.340T>C
1 paper
NM_181486.4
p.W121Splc
c.362+4G>T
1 paper
NM_181486.4
p.R113I
c.338G>T
3 papers
NM_181486.4
p.R113K
c.338G>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."