Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.N397H

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
5 papers
NM_080647.1
p.N397H
c.1189A>C
Surrounding Variants
1 paper
NM_080647.1
p.P396L
c.1187C>T
1 paper
NM_080647.1
p.P395P
c.1185C>T
1 paper
NM_080647.1
p.P398P
c.1194C>A
1 paper
NM_001379200.1
p.P404S
c.1210C>T
1 paper
NM_001379200.1
p.E408K
c.1222G>A
2 papers
NM_001379200.1
p.L409L
c.1225C>T
1 paper
NM_001379200.1
p.L409L
c.1227G>T
1 paper
NM_001379200.1
p.R410insFs
c.1229dupG
1 paper
NM_001379200.1
p.P402fs
c.1204_1205fs
1 paper
NM_080647.1
p.P393delFs
c.1178delC
1 paper
NM_001379200.1
p.R401W
c.1201C>T
3 papers
NM_001379200.1
p.L411P
c.1232T>C
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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."