Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.K226E

TBX5

405 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 56–238UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 5

HGNC Previous Symbol

HOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181486.4
p.K226E
c.676A>G
Surrounding Variants
2 papers
NM_181486.4
p.K226R
c.677A>G
1 paper
NM_181486.4
p.L225*
c.674T>G
4 papers
NM_181486.4
p.K226N
c.678G>T
4 papers
NM_181486.4
p.K226N
c.678G>C
1 paper
NM_181486.4
p.I227insFs
c.680_681ins11
1 paper
NM_181486.4
p.I227insFs
c.680_681ins4
3 papers
NM_181486.4
p.I227T
c.680T>C
1 paper
NM_181486.4
p.I227fs
c.679_680fs
1 paper
NM_181486.4
p.I227_E228delFs
c.680_683del4
21 papers
NM_181486.4
p.T223M
c.668C>T
1 paper
NM_181486.4
p.I222N
c.665T>A
1 paper
NM_181486.4
p.K221_I222Splc
c.664-1G>A
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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."