Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.P96L

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
5 papers
NM_181486.4
p.P96L
c.287C>T
Surrounding Variants
1 paper
NM_181486.4
p.P96S
c.286C>T
1 paper
NM_181486.4
p.N95S
c.284A>G
6 papers
NM_181486.4
p.L94R
c.281T>G
2 papers
NM_181486.4
p.L94delFs
c.280delG
1 paper
NM_181486.4
p.T98T
c.294G>T
1 paper
NM_181486.4
p.K99*
c.295A>T
1 paper
NM_181486.4
p.G93V
c.278G>T
1 paper
NM_181486.4
p.G93A
c.278G>C
1 paper
NM_181486.4
p.G93D
c.278G>A
1 paper
NM_181486.4
p.G93S
c.277G>A
1 paper
NM_181486.4
p.Y100_I101insG
c.298_302ins3
1 paper
NM_181486.4
p.T92M
c.275C>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."