Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.M139I

TBX1

254 papers

RefSeq Summary

This gene is a member of a phylogenetically 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 developm...

Pfam Domains

T-boxaa 121–306UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 1

HGNC Alias Symbol

CATCH22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379200.1
p.M139I
c.417G>C
Surrounding Variants
1 paper
NM_001379200.1
p.M139I
c.417G>A
1 paper
NM_001379200.1
p.M139I
c.417G>T
1 paper
NM_001379200.1
p.I140_G145del6
c.418_434del18
1 paper
NM_001379200.1
p.M139L
c.415A>C
1 paper
NM_001379200.1
p.M139L
c.415A>T
1 paper
NM_001379200.1
p.I140I
c.420C>T
6 papers
NM_080647.1
p.E129K
c.385G>A
1 paper
NM_001379200.1
p.G136G
c.408C>G
1 paper
NM_001379200.1
p.G136R
c.406G>C
1 paper
NM_080647.1
p.G136S
c.406G>A
2 papers
NM_001379200.1
p.G145R
c.433G>C
1 paper
NM_001379200.1
p.E131K
c.391G>A
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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."