Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P167delFs

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.P167delFs
c.500delG
Surrounding Variants
1 paper
NM_181486.4
p.P167T
c.499C>A
1 paper
NM_181486.4
p.F168fs
c.502_503fs
1 paper
NM_181486.4
p.F168insFs
c.504dupT
19 papers
NM_181486.4
p.G169R
c.505G>C
19 papers
NM_181486.4
p.G169R
c.505G>A
2 papers
NM_181486.4
p.F168delFs
c.504delA
1 paper
NM_181486.4
p.G169fs
c.505_506fs
1 paper
NM_181486.4
p.D166G
c.497A>G
1 paper
NM_181486.4
p.D166delFs
c.496delC
1 paper
NM_181486.4
p.H170Y
c.508C>T
1 paper
NM_181486.4
p.H170D
c.508C>G
7 papers
NM_181486.4
p.H170L
c.509A>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."