Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.F84L

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.F84L
c.252T>G
Surrounding Variants
1 paper
NM_181486.4
p.F84L
c.252T>A
2 papers
NM_181486.4
p.P85S
c.253C>T
3 papers
NM_181486.4
p.P85T
c.253C>A
1 paper
NM_181486.4
p.F84L
c.250T>C
1 paper
NM_181486.4
p.R82_M83delFs
c.246_249del4
2 papers
NM_181486.4
p.P85L
c.254C>T
1 paper
NM_181486.4
p.M83insFs
c.247dupA
1 paper
NM_181486.4
p.M83R
c.248T>G
2 papers
NM_181486.4
p.M83fs
c.247_248fs
2 papers
NM_181486.4
p.R82_M83insFs
c.246_247insAA
1 paper
NM_181486.4
p.Y87*
c.261C>A
3 papers
NM_181486.4
p.R81Splc
c.243-1G>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."