Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.H148fs

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.H148fs
c.442_443fs
Surrounding Variants
1 paper
NM_006593.4
p.H148delFs
c.443_444delAC
1 paper
NM_006593.4
p.Y157delFs
c.471delC
2 papers
NM_006593.4
p.Y157*
c.471C>A
2 papers
NM_006593.4
p.Y157*
c.471C>G
1 paper
NM_006593.4
p.S159G
c.475A>G
1 paper
NM_006593.4
p.S159N
c.476G>A
3 papers
NM_006593.4
p.A136P
c.406G>C
2 papers
NM_006593.4
p.A136fs
c.406_407fs
4 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
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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."