Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.G674S

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.G674S
c.2020G>A
Surrounding Variants
1 paper
NM_006593.4
p.H681_S682insGCT
c.2041_2045ins9
1 paper
NM_006593.4
p.H681P
c.2042A>C
1 paper
NM_006593.4
p.S650_S651del2
c.1948_1952del6
1 paper
NM_006593.4
p.Y632*
c.1896C>A
1 paper
NM_006593.4
p.Y632*
c.1896C>G
1 paper
NM_006593.4
p.D603delFs
c.1807delG
1 paper
NM_006593.4
p.G599S
c.1795G>A
1 paper
NM_006593.4
p.P597A
c.1789C>G
1 paper
NM_006593.4
p.L596Q
c.1787T>A
1 paper
NM_006593.4
p.G577D
c.1730G>A
1 paper
NM_006593.4
p.G577S
c.1729G>A
1 paper
NM_006593.4
p.G577fs
c.1729_1730fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."