Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.C274S

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.C274S
c.821G>C
Surrounding Variants
1 paper
NM_006593.4
p.C274S
c.820T>A
2 papers
NM_006593.4
p.G275C
c.823G>T
1 paper
NM_006593.4
p.G275A
c.824G>C
12 papers
NM_006593.4
p.W271C
c.813G>C
12 papers
NM_006593.4
p.W271C
c.813G>T
3 papers
NM_006593.4
p.W271S
c.812G>C
11 papers
NM_006593.4
p.W271R
c.811T>A
11 papers
NM_006593.4
p.W271R
c.811T>C
2 papers
NM_006593.4
p.Q282*
c.844C>T
1 paper
NM_006593.4
p.V256L
c.766G>C
1 paper
NM_006593.4
p.V256L
c.766G>T
1 paper
NM_006593.4
p.D255E
c.765T>A
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