Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Y291*

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
3 papers
NM_181486.4
p.Y291*
c.873C>G
Surrounding Variants
3 papers
NM_181486.4
p.Y291*
c.873C>A
2 papers
NM_181486.4
p.Q292R
c.875A>G
1 paper
NM_181486.4
p.Q290*
c.868C>T
1 paper
NM_181486.4
p.C293*
c.879T>A
3 papers
NM_181486.4
p.E294*
c.880G>T
1 paper
NM_181486.4
p.S289delFs
c.865delA
1 paper
NM_181486.4
p.N295K
c.885T>G
1 paper
NM_181486.4
p.N295K
c.885T>A
10 papers
NM_181486.4
p.G296S
c.886G>A
1 paper
NM_181486.4
p.G296V
c.887G>T
1 paper
NM_181486.4
p.S284*
c.851C>G
1 paper
NM_181486.4
p.S284*
c.851C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."