Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.T457Fs

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.T457Fs
c.1369_1371delinsCAFs
Surrounding Variants
2 papers
NM_006593.4
p.T457fs
c.1369_1370fs
1 paper
NM_006593.4
p.N465T
c.1394A>C
1 paper
NM_006593.4
p.A451_G452ins0
c.1351_1356dup6
1 paper
NM_006593.4
p.H446P
c.1337A>C
1 paper
NM_006593.4
p.A443_R444del2
c.1327_1331del6
2 papers
NM_006593.4
p.G477S
c.1429G>A
1 paper
NM_006593.4
p.V437L
c.1309G>C
1 paper
NM_006593.4
p.V437L
c.1309G>T
1 paper
NM_006593.4
p.Q435*
c.1303C>T
1 paper
NM_006593.4
p.R483C
c.1447C>T
1 paper
NM_006593.4
p.P488T
c.1462C>A
1 paper
NM_006593.4
p.R492delFs
c.1474delC
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