Varaico: Literature-Extracted Genetic Variants

Gene:TBXT
Variant:p.H262H

TBXT

138 papers

RefSeq Summary

The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-bo...

Pfam Domains

T-boxaa 44–219UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor T

HGNC Previous Names

T, brachyury homolog (mouse); T brachyury transcription factor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366285.2
p.H262H
c.786T>C
Surrounding Variants
1 paper
NM_001366285.2
p.N260delFs
c.778delT
1 paper
NM_003181.4
p.P271S
c.811C>T
1 paper
NM_001366285.2
p.P281L
c.842C>T
1 paper
NM_001366285.2
p.H297Y
c.889C>T
1 paper
NM_001366285.2
p.R298R
c.894G>T
1 paper
NM_001366285.2
p.S323C
c.967A>T
1 paper
NM_001366285.2
p.L333delFs
c.998delA
1 paper
NM_001366285.2
p.T343T
c.1029C>T
2 papers
NM_001366285.2
p.S346Splc
c.1037+79C>T
1 paper
NM_001366285.2
p.S244Splc
c.730+6G>T
1 paper
NM_001366285.2
p.Q243P
c.728A>C
1 paper
NM_001366285.2
p.P239S
c.715C>T
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."