Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Y255*

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
2 papers
NM_181486.4
p.Y255*
c.765T>A
Surrounding Variants
1 paper
NM_181486.4
p.Y255*
c.765T>G
10 papers
NM_181486.4
p.S252I
c.755G>T
2 papers
NM_181486.4
p.S252Splc
c.756-1G>A
3 papers
NM_181486.4
p.S252Splc
c.756-3C>G
11 papers
NM_181486.4
p.S261C
c.781A>T
1 paper
NM_181486.4
p.T262T
c.786C>T
10 papers
NM_181486.4
p.V263M
c.787G>A
6 papers
NM_181486.4
p.R264K
c.791G>A
1 paper
NM_181486.4
p.Q265R
c.794A>G
3 papers
NM_181486.4
p.K266R
c.797A>G
2 papers
NM_181486.4
p.V267M
c.799G>A
3 papers
NM_181486.4
p.K266delFs
c.798delT
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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."