Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.W545_R548insFs

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
3 papers
NM_006593.4
p.W545_R548insFs
c.1635_1644dup10
Surrounding Variants
1 paper
NM_006593.4
p.A547_P550insFs
c.1639_1648dup10
2 papers
NM_006593.4
p.A547insFs
c.1639_1640ins10
1 paper
NM_006593.4
p.A547S
c.1639G>T
1 paper
NM_006593.4
p.S543L
c.1628C>T
7 papers
NM_006593.4
p.P542R
c.1625C>G
1 paper
NM_006593.4
p.S549fs
c.1645_1646fs
2 papers
NM_006593.4
p.S549fs
c.1645_1646fs
1 paper
NM_006593.4
p.P551insFs
c.1652dupC
2 papers
NM_006593.4
p.P550fs
c.1648_1649fs
1 paper
NM_006593.4
p.P551_Q552delFs
c.1653_1654delGC
2 papers
NM_006593.4
p.Q552fs
c.1654_1655fs
3 papers
NM_006593.4
p.Y553fs
c.1657_1658fs
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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."