Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.G365delFs

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.G365delFs
c.1093delG
Surrounding Variants
1 paper
NM_001379200.1
p.V363_A368del0
c.1089_1103del15
1 paper
NM_080647.1
p.A353A
c.1059A>G
1 paper
NM_080647.1
p.P358P
c.1074G>A
1 paper
NM_080647.1
p.P352insFs
c.1054dupC
2 papers
NM_080647.1
p.G350D
c.1049G>A
1 paper
NM_001379200.1
p.P371insFs
c.1112_1113insC
1 paper
NM_080647.1
p.R347S
c.1039C>A
1 paper
NM_001379200.1
p.L374_A375insFs
c.1122_1123insA
2 papers
NM_001379200.1
p.E353E
c.1059A>G
1 paper
NM_001379200.1
p.R376Q
c.1127G>A
1 paper
NM_080647.1
p.R342Q
c.1025G>A
1 paper
NM_001379200.1
p.A350V
c.1049C>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."