Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.K389E

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
9 papers
NM_006593.4
p.K389E
c.1165A>G
Surrounding Variants
1 paper
NM_006593.4
p.D393insFs
c.1177dupG
1 paper
NM_006593.4
p.R392W
c.1174C>T
3 papers
NM_006593.4
p.N385K
c.1155C>A
3 papers
NM_006593.4
p.N385K
c.1155C>G
1 paper
NM_006593.4
p.R392L
c.1175G>T
1 paper
NM_006593.4
p.P386delFs
c.1157delC
2 papers
NM_006593.4
p.D393fs
c.1177_1178fs
3 papers
NM_006593.4
p.D376_I377Splc
c.1129-1G>C
13 papers
NM_006593.4
p.N374H
c.1120A>C
1 paper
NM_006593.4
p.N374Y
c.1120A>T
4 papers
NM_006593.4
p.Q373R
c.1118A>G
1 paper
NM_006593.4
p.T370A
c.1108A>G
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