Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.L225F

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.L225F
c.673C>T
Surrounding Variants
1 paper
NM_001379200.1
p.L225I
c.673C>A
1 paper
NM_001379200.1
p.K217E
c.649A>G
1 paper
NM_001379200.1
p.W215*
c.645G>A
1 paper
NM_001379200.1
p.H237_I238Splc
c.711+1G>A
2 papers
NM_001379200.1
p.G212R
c.634G>C
1 paper
NM_080647.1
p.H228_I229Splc
c.684+7G>T
1 paper
NM_001379200.1
p.D207A
c.620A>C
4 papers
NM_080646.2
p.H194Q
c.582C>A
2 papers
NM_080647.1
p.H194_Y195ins1
c.582_583insCAG
4 papers
NM_080646.2
p.H194Q
c.582C>G
1 paper
NM_080647.1
p.V193L
c.577G>C
1 paper
NM_080647.1
p.V193L
c.577G>T
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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."