Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.D140E

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.D140E
c.420C>G
Surrounding Variants
1 paper
NM_181486.4
p.D140D
c.420C>T
1 paper
NM_181486.4
p.D140E
c.420C>A
1 paper
NM_181486.4
p.D140A
c.419A>C
4 papers
NM_181486.4
p.P139delFs
c.416delG
1 paper
NM_181486.4
p.P142S
c.424C>T
1 paper
NM_181486.4
p.P139Q
c.416C>A
1 paper
NM_181486.4
p.P139A
c.415C>G
1 paper
NM_181486.4
p.H138H
c.414C>T
2 papers
NM_181486.4
p.A143insFs
c.427_428insC
6 papers
NM_181486.4
p.A143T
c.427G>A
1 paper
NM_181486.4
p.P142delFs
c.426delG
1 paper
NM_181486.4
p.V137A
c.410T>C
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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."