Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.H37H

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.H37H
c.111T>C
Surrounding Variants
1 paper
NM_006593.4
p.P38T
c.112C>A
1 paper
NM_006593.4
p.H37_I39delFs
c.110_116del7
1 paper
NM_006593.4
p.D36G
c.107A>G
1 paper
NM_006593.4
p.S41*
c.122C>A
1 paper
NM_006593.4
p.L32L
c.96T>G
1 paper
NM_006593.4
p.E31Q
c.91G>C
1 paper
NM_006593.4
p.S30S
c.90C>T
1 paper
NM_006593.4
p.S27S
c.81A>G
1 paper
NM_006593.4
p.R57K
c.170G>A
1 paper
NM_006593.4
p.P9fs
c.25_26fs
2 papers
NM_006593.4
p.P9fs
c.25_26fs
1 paper
NM_006593.4
p.P9delFs
c.26delC
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