Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.T324T

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.T324T
c.972C>T
Surrounding Variants
1 paper
NM_181486.4
p.K325fs
c.973_974fs
1 paper
NM_181486.4
p.C323Y
c.968G>A
1 paper
NM_181486.4
p.R326delFs
c.978delC
1 paper
NM_181486.4
p.E328Splc
c.982+10A>G
4 papers
NM_181486.4
p.E316*
c.946G>T
1 paper
NM_181486.4
p.E316K
c.946G>A
2 papers
NM_181486.4
p.Q315R
c.944A>G
1 paper
NM_181486.4
p.Q315*
c.943C>T
2 papers
NM_181486.4
p.L313delFs
c.939delC
1 paper
NM_181486.4
p.P312S
c.934C>T
1 paper
NM_181486.4
p.Y311*
c.933C>G
1 paper
NM_181486.4
p.P308delFs
c.924delG
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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."