Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P35insFs

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.P35insFs
c.105dupC
Surrounding Variants
1 paper
NM_181486.4
p.S36fs
c.106_107fs
1 paper
NM_181486.4
p.P35R
c.104C>G
3 papers
NM_181486.4
p.A34insFs
c.101_102insG
6 papers
NM_181486.4
p.A34delFs
c.100delC
1 paper
NM_181486.4
p.A34S
c.100G>T
2 papers
NM_181486.4
p.A34fs
c.100_101fs
1 paper
NM_181486.4
p.G33fs
c.97_98fs
3 papers
NM_181486.4
p.G33R
c.97G>A
1 paper
NM_181486.4
p.A31A
c.93G>A
1 paper
NM_181486.4
p.S40L
c.119C>T
1 paper
NM_181486.4
p.S40*
c.119C>A
1 paper
NM_181486.4
p.P42Q
c.125C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."