Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.H95R

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
2 papers
NM_006593.4
p.H95R
c.284A>G
Surrounding Variants
1 paper
NM_006593.4
p.R94C
c.280C>T
1 paper
NM_006593.4
p.L93fs
c.277_278fs
1 paper
NM_006593.4
p.L93delFs
c.277delC
1 paper
NM_006593.4
p.G99D
c.296G>A
1 paper
NM_006593.4
p.S110_A116del7
c.328_347del21
1 paper
NM_006593.4
p.A117delFs
c.349delG
1 paper
NM_006593.4
p.D73delFs
c.217delG
1 paper
NM_006593.4
p.N67S
c.200A>G
1 paper
NM_006593.4
p.F124_P125delFs
c.370_374del5
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.G128S
c.382G>A
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