Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.T350insFs

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
4 papers
NM_006593.4
p.T350insFs
c.1048_1049insC
Surrounding Variants
1 paper
NM_006593.4
p.T350fs
c.1048_1049fs
1 paper
NM_006593.4
p.T350Fs
c.1049delinsACFs
1 paper
NM_006593.4
p.S351fs
c.1051_1052fs
1 paper
NM_006593.4
p.D349del1
c.1045_1046delGAC
1 paper
NM_006593.4
p.G354delFs
c.1060delG
1 paper
NM_006593.4
p.D345N
c.1033G>A
7 papers
NM_006593.4
p.V356M
c.1066G>A
1 paper
NM_006593.4
p.E363D
c.1089G>C
1 paper
NM_006593.4
p.E363D
c.1089G>T
1 paper
NM_006593.4
p.T364T
c.1092T>C
1 paper
NM_006593.4
p.P335Fs
c.1003delinsGAFs
1 paper
NM_006593.4
p.V369_A371del0
c.1105_1113del9
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