Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.A496V

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.A496V
c.1487C>T
Surrounding Variants
1 paper
NM_006593.4
p.R492fs
c.1474_1475fs
1 paper
NM_006593.4
p.R492delFs
c.1474delC
1 paper
NM_006593.4
p.P488T
c.1462C>A
1 paper
NM_006593.4
p.G508S
c.1522G>A
1 paper
NM_006593.4
p.G508D
c.1523G>A
1 paper
NM_006593.4
p.R483C
c.1447C>T
1 paper
NM_006593.4
p.A510T
c.1528G>A
1 paper
NM_006593.4
p.S515F
c.1544C>T
2 papers
NM_006593.4
p.G477S
c.1429G>A
1 paper
NM_006593.4
p.A517T
c.1549G>A
1 paper
NM_006593.4
p.A519V
c.1556C>T
1 paper
NM_006593.4
p.K522R
c.1565A>G
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