Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.D255E

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
Selected Variant
1 paper
NM_006593.4
p.D255E
c.765T>G
Surrounding Variants
1 paper
NM_006593.4
p.D255E
c.765T>A
1 paper
NM_006593.4
p.V256L
c.766G>C
1 paper
NM_006593.4
p.V256L
c.766G>T
1 paper
NM_006593.4
p.Y250N
c.748T>A
1 paper
NM_006593.4
p.Y250D
c.748T>G
1 paper
NM_006593.4
p.T247M
c.740C>T
11 papers
NM_006593.4
p.W271R
c.811T>A
11 papers
NM_006593.4
p.W271R
c.811T>C
3 papers
NM_006593.4
p.W271S
c.812G>C
12 papers
NM_006593.4
p.W271C
c.813G>C
12 papers
NM_006593.4
p.W271C
c.813G>T
3 papers
NM_006593.4
p.S238fs
c.712_713fs
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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."