Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.W121G

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
9 papers
NM_181486.4
p.W121G
c.361T>G
Surrounding Variants
1 paper
NM_181486.4
p.W121R
c.361T>C
1 paper
NM_181486.4
p.W121R
c.361T>A
2 papers
NM_181486.4
p.W121Splc
c.363-1G>A
2 papers
NM_181486.4
p.W121Splc
c.363-5T>C
1 paper
NM_181486.4
p.T124K
c.371C>A
23 papers
NM_181486.4
p.G125R
c.373G>C
3 papers
NM_181486.4
p.G125S
c.373G>A
1 paper
NM_181486.4
p.G125G
c.375C>T
3 papers
NM_181486.4
p.G125delFs
c.374delC
1 paper
NM_181486.4
p.K126Q
c.376A>C
1 paper
NM_181486.4
p.E128*
c.382G>T
2 papers
NM_181486.4
p.P132S
c.394C>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."