Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.K228E

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
24 papers
NM_006593.4
p.K228E
c.682A>G
Surrounding Variants
1 paper
NM_006593.4
p.I226N
c.677T>A
3 papers
NM_006593.4
p.I225F
c.673A>T
1 paper
NM_006593.4
p.R231K
c.692G>A
1 paper
NM_006593.4
p.E223Q
c.667G>C
1 paper
NM_006593.4
p.F217del1
c.649_650delTTT
1 paper
NM_006593.4
p.V200M
c.598G>A
1 paper
NM_006593.4
p.A187delFs
c.560delC
2 papers
NM_006593.4
p.Q185*
c.553C>T
6 papers
NM_006593.4
p.Q178E
c.532C>G
1 paper
NM_006593.4
p.G173R
c.517G>C
1 paper
NM_006593.4
p.T171A
c.511A>G
1 paper
NM_006593.4
p.P170L
c.509C>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."