Varaico: Literature-Extracted Genetic Variants

Gene:TBXT
Variant:p.L42M

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.L42M
c.124C>A
Surrounding Variants
1 paper
NM_001366285.2
p.L42Q
c.125T>A
1 paper
NM_001366285.2
p.P37_E39del3
c.109_116del9
1 paper
NM_001366285.2
p.T38_E39insFs
c.112_115dup4
1 paper
NM_001366285.2
p.P37_E39del0
c.110_115del6
1 paper
NM_001366285.2
p.P37T
c.109C>A
1 paper
NM_001366285.2
p.G35_D36del2
c.103_107del6
1 paper
NM_001366285.2
p.G35insFs
c.105dupC
1 paper
NM_001366285.2
p.G35G
c.105C>A
1 paper
NM_001366285.2
p.S49C
c.145A>T
1 paper
NM_001366285.2
p.E33K
c.97G>A
1 paper
NM_001366285.2
p.W52C
c.156G>C
2 papers
NM_001366285.2
p.A30P
c.88G>C
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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."