Varaico: Literature-Extracted Genetic Variants

Gene:TBR1

TBR1

165 papers

RefSeq Summary

This gene is a member of a 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 numerous developmental pr...

Pfam Domains

T-boxaa 206–393UCSCT-box
T-box_assocaa 418–680UCSCT-box transcription factor-associated

Gene Aliases

HGNC Name

T-box brain transcription factor 1

HGNC Previous Names

T-box, brain, 1; T-box, brain 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
24 papers
NM_006593.4
p.K228E
c.682A>G
13 papers
NM_006593.4
p.N374H
c.1120A>C
12 papers
NM_006593.4
p.W271C
c.813G>C
12 papers
NM_006593.4
p.W271C
c.813G>T
11 papers
NM_006593.4
p.W271R
c.811T>A
11 papers
NM_006593.4
p.W271R
c.811T>C
9 papers
NM_006593.4
p.K389E
c.1165A>G
8 papers
NM_006593.4
p.G530_T532insFs
c.1588_1594dup7
7 papers
NM_006593.4
p.V356M
c.1066G>A
7 papers
NM_006593.4
p.T532fs
c.1594_1595fs
7 papers
NM_006593.4
p.P542R
c.1625C>G
6 papers
NM_006593.4
p.Q178E
c.532C>G
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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."