Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.A483S

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.A483S
c.1447G>T
Surrounding Variants
1 paper
NM_001379200.1
p.A484delFs
c.1452delC
1 paper
NM_001379200.1
p.N486H
c.1456A>C
1 paper
NM_001379200.1
p.Y488_A491del0
c.1462_1473del12
1 paper
NM_001379200.1
p.A475T
c.1423G>A
1 paper
NM_001379200.1
p.A494_P495delFs
c.1481_1485del5
1 paper
NM_001379200.1
p.A473E
c.1418C>A
1 paper
NM_001379200.1
p.A473T
c.1417G>A
1 paper
NM_001379200.1
p.A472T
c.1414G>A
1 paper
NM_001379200.1
p.A494V
c.1481C>T
1 paper
NM_001379200.1
p.P496T
c.1486C>A
1 paper
NM_001379200.1
p.P467A
c.1399C>G
3 papers
NM_080647.1
p.Y490C
c.1469A>G
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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."