Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.H68N

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.H68N
c.202C>A
Surrounding Variants
1 paper
NM_080717.4
p.H18D
c.52C>G
1 paper
NM_181486.4
p.F67F
c.201C>T
2 papers
NM_181486.4
p.F67L
c.199T>C
11 papers
NM_181486.4
p.E69*
c.205G>T
1 paper
NM_181486.4
p.V70M
c.208G>A
2 papers
NM_181486.4
p.L65delFs
c.194delA
1 paper
NM_181486.4
p.H68_V70del3
c.202_209del9
3 papers
NM_181486.4
p.L65fs
c.193_194fs
4 papers
NM_181486.4
p.W64*
c.192G>A
4 papers
NM_181486.4
p.W64*
c.191G>A
1 paper
NM_181486.4
p.T72M
c.215C>T
4 papers
NM_181486.4
p.T72K
c.215C>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."