Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Q156L

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.Q156L
c.467A>T
Surrounding Variants
1 paper
NM_181486.4
p.Q156insFs
c.467_468insA
4 papers
NM_181486.4
p.S154A
c.460T>G
1 paper
NM_181486.4
p.S154P
c.460T>C
1 paper
NM_181486.4
p.V153V
c.459C>G
1 paper
NM_181486.4
p.V153insFs
c.457_458insG
1 paper
NM_181486.4
p.V153D
c.458T>A
3 papers
NM_181486.4
p.L152delFs
c.456delG
1 paper
NM_181486.4
p.L160F
c.478C>T
2 papers
NM_181486.4
p.T161P
c.481A>C
1 paper
NM_181486.4
p.K159_L160ins0
c.475_480dup6
3 papers
NM_181486.4
p.Q151*
c.451C>T
1 paper
NM_181486.4
p.R150S
c.450G>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."