Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Q302fs

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.Q302fs
c.904_905fs
Surrounding Variants
1 paper
NM_181486.4
p.Q302delFs
c.905delT
1 paper
NM_181486.4
p.S301C
c.902C>G
1 paper
NM_181486.4
p.D303E
c.909C>G
2 papers
NM_181486.4
p.D303E
c.909C>A
1 paper
NM_181486.4
p.G296V
c.887G>T
10 papers
NM_181486.4
p.G296S
c.886G>A
1 paper
NM_181486.4
p.N295K
c.885T>G
1 paper
NM_181486.4
p.N295K
c.885T>A
1 paper
NM_181486.4
p.P308delFs
c.924delG
3 papers
NM_181486.4
p.E294*
c.880G>T
1 paper
NM_181486.4
p.C293*
c.879T>A
1 paper
NM_181486.4
p.Y311*
c.933C>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."