Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.F232V

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
2 papers
NM_181486.4
p.F232V
c.694T>G
Surrounding Variants
2 papers
NM_181486.4
p.F232L
c.694T>C
2 papers
NM_181486.4
p.F232L
c.696T>G
2 papers
NM_181486.4
p.F232L
c.696T>A
1 paper
NM_181486.4
p.P231L
c.692C>T
1 paper
NM_181486.4
p.A233D
c.698C>A
1 paper
NM_181486.4
p.G235E
c.704G>A
1 paper
NM_181486.4
p.I227_E228delFs
c.680_683del4
1 paper
NM_181486.4
p.I227fs
c.679_680fs
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
44 papers
NM_181486.4
p.R237W
c.709C>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."