Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.A136fs

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
4 papers
NM_006593.4
p.A136fs
c.406_407fs
Surrounding Variants
3 papers
NM_006593.4
p.A136P
c.406G>C
2 papers
NM_006593.4
p.A136fs
c.406_407fs
1 paper
NM_006593.4
p.H134R
c.401A>G
5 papers
NM_006593.4
p.P135delFs
c.405delC
1 paper
NM_006593.4
p.A133S
c.397G>T
1 paper
NM_006593.4
p.Q129*
c.385C>T
1 paper
NM_006593.4
p.G128S
c.382G>A
1 paper
NM_006593.4
p.H148delFs
c.443_444delAC
1 paper
NM_006593.4
p.H148fs
c.442_443fs
1 paper
NM_006593.4
p.F124I
c.370T>A
2 papers
NM_006593.4
p.F124fs
c.370_371fs
1 paper
NM_006593.4
p.F124_P125delFs
c.370_374del5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."