Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.R61S

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.R61S
c.183A>T
Surrounding Variants
1 paper
NM_181486.4
p.R61S
c.183A>C
4 papers
NM_181486.4
p.W64*
c.191G>A
4 papers
NM_181486.4
p.W64*
c.192G>A
1 paper
NM_181486.4
p.L58P
c.173T>C
3 papers
NM_181486.4
p.L65fs
c.193_194fs
2 papers
NM_181486.4
p.L65delFs
c.194delA
2 papers
NM_181486.4
p.F67L
c.199T>C
1 paper
NM_181486.4
p.V56delFs
c.166delC
1 paper
NM_181486.4
p.F67F
c.201C>T
1 paper
NM_181486.4
p.K55K
c.165A>G
1 paper
NM_080717.4
p.H18D
c.52C>G
1 paper
NM_181486.4
p.H68N
c.202C>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."