Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.S165A

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.S165A
c.493T>G
Surrounding Variants
1 paper
NM_006593.4
p.S165L
c.494C>T
1 paper
NM_006593.4
p.P170L
c.509C>T
1 paper
NM_006593.4
p.S159N
c.476G>A
1 paper
NM_006593.4
p.S159G
c.475A>G
1 paper
NM_006593.4
p.T171A
c.511A>G
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.Y157delFs
c.471delC
1 paper
NM_006593.4
p.G173R
c.517G>C
6 papers
NM_006593.4
p.Q178E
c.532C>G
1 paper
NM_006593.4
p.H148fs
c.442_443fs
1 paper
NM_006593.4
p.H148delFs
c.443_444delAC
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."