Varaico: Literature-Extracted Genetic Variants

Gene:TBXT
Variant:p.H171R

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
8 papers
NM_001366285.2
p.H171R
c.512A>G
Surrounding Variants
1 paper
NM_001366285.2
p.H171P
c.512A>C
1 paper
NM_001366285.2
p.H171Y
c.511C>T
1 paper
NM_001366285.2
p.I172T
c.515T>C
1 paper
NM_001366285.2
p.E167A
c.500A>C
1 paper
NM_001366285.2
p.Y166*
c.498T>G
1 paper
NM_001366285.2
p.Y166*
c.498T>A
1 paper
NM_001366285.2
p.Y166C
c.497A>G
1 paper
NM_001366285.2
p.G177V
c.530G>T
12 papers
NM_001366285.2
p.G177D
c.530G>A
1 paper
NM_001366285.2
p.L160V
c.478C>G
1 paper
NM_001366285.2
p.Q157_I158Splc
c.472-1G>T
1 paper
NM_001366285.2
p.P188L
c.563C>T
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