Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.R305Q

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.R305Q
c.914G>A
Surrounding Variants
1 paper
NM_001379200.1
p.R305G
c.913C>G
1 paper
NM_080647.1
p.R296W
c.886C>T
1 paper
NM_001379200.1
p.P309S
c.925C>T
1 paper
NM_001379200.1
p.A301T
c.901G>A
11 papers
NM_001379200.1
p.E310K
c.928G>A
1 paper
NM_001379200.1
p.P299L
c.896C>T
1 paper
NM_005992.1
p.P290S
c.868C>T
1 paper
NM_080647.1
p.W303*
c.908G>A
1 paper
NM_080647.1
p.W303*
c.909G>A
1 paper
NM_001379200.1
p.W312Splc
c.935+1G>T
1 paper
NM_001379200.1
p.A296T
c.886G>A
3 papers
NM_001379200.1
p.L293F
c.877C>T
NM_080647.1
p.L284F
c.850C>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."