Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.D105N

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.D105N
c.313G>A
Surrounding Variants
1 paper
NM_181486.4
p.M104T
c.311T>C
8 papers
NM_181486.4
p.I106V
c.316A>G
3 papers
NM_181486.4
p.L103L
c.309C>T
1 paper
NM_181486.4
p.V107E
c.320T>A
5 papers
NM_181486.4
p.L102P
c.305T>C
4 papers
NM_181486.4
p.P108T
c.322C>A
1 paper
NM_181486.4
p.P108insFs
c.323dupC
1 paper
NM_181486.4
p.A109T
c.325G>A
3 papers
NM_181486.4
p.I101F
c.301A>T
1 paper
NM_181486.4
p.Y100Y
c.300C>T
1 paper
NM_181486.4
p.Y100*
c.300C>G
1 paper
NM_181486.4
p.Y100F
c.299A>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."