Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.S284*

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.S284*
c.851C>A
Surrounding Variants
1 paper
NM_181486.4
p.S284*
c.851C>G
1 paper
NM_181486.4
p.T283N
c.848C>A
1 paper
NM_181486.4
p.L281P
c.842T>C
1 paper
NM_181486.4
p.A280A
c.840T>G
2 papers
NM_181486.4
p.R279R
c.837A>G
2 papers
NM_181486.4
p.R279Q
c.836G>A
1 paper
NM_181486.4
p.S289delFs
c.865delA
21 papers
NM_181486.4
p.R279*
c.835C>T
1 paper
NM_181486.4
p.Q290*
c.868C>T
3 papers
NM_181486.4
p.Y291*
c.873C>G
3 papers
NM_181486.4
p.Y291*
c.873C>A
2 papers
NM_181486.4
p.Q292R
c.875A>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."