Varaico: Literature-Extracted Genetic Variants

Gene:TBX5

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
1–12 of 498 variants
48 papers
NM_181486.4
p.G80R
c.238G>C
48 papers
NM_181486.4
p.G80R
c.238G>A
44 papers
NM_181486.4
p.R237W
c.709C>T
44 papers
NM_181486.4
p.R237Q
c.710G>A
23 papers
NM_181486.4
p.G125R
c.373G>C
21 papers
NM_181486.4
p.T223M
c.668C>T
21 papers
NM_181486.4
p.R279*
c.835C>T
19 papers
NM_181486.4
p.G169R
c.505G>C
19 papers
NM_181486.4
p.G169R
c.505G>A
18 papers
NM_181486.4
p.Q49K
c.145C>A
18 papers
NM_181486.4
p.I54T
c.161T>C
18 papers
NM_181486.4
p.D111Y
c.331G>T
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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."