Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.T532fs

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
7 papers
NM_006593.4
p.T532fs
c.1594_1595fs
Surrounding Variants
3 papers
NM_006593.4
p.T532fs
c.1594_1595fs
1 paper
NM_006593.4
p.T532insFs
c.1595_1596ins7
2 papers
NM_006593.4
p.G533fs
c.1597_1598fs
1 paper
NM_006593.4
p.G530_T532insFs
c.1589_1595dup7
1 paper
NM_006593.4
p.L526fs
c.1576_1577fs
8 papers
NM_006593.4
p.G530_T532insFs
c.1588_1594dup7
1 paper
NM_006593.4
p.P525_T532insFs
c.1575_1594dup20
1 paper
NM_006593.4
p.P525insFs
c.1574_1575ins7
1 paper
NM_006593.4
p.K522R
c.1565A>G
7 papers
NM_006593.4
p.P542R
c.1625C>G
1 paper
NM_006593.4
p.S543L
c.1628C>T
1 paper
NM_006593.4
p.A519V
c.1556C>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."