Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Q49K

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
18 papers
NM_181486.4
p.Q49K
c.145C>A
Surrounding Variants
4 papers
NM_181486.4
p.Q48L
c.143A>T
2 papers
NM_181486.4
p.Q49_G50Splc
c.147+1G>C
1 paper
NM_181486.4
p.A45P
c.133G>C
1 paper
NM_181486.4
p.A44S
c.130G>T
1 paper
NM_181486.4
p.A44T
c.130G>A
1 paper
NM_181486.4
p.Q43P
c.128A>C
1 paper
NM_181486.4
p.S40_P42del3
c.118_125del9
1 paper
NM_181486.4
p.P42Q
c.125C>A
1 paper
NM_181486.4
p.S40L
c.119C>T
1 paper
NM_181486.4
p.S40*
c.119C>A
1 paper
NM_181486.4
p.S36fs
c.106_107fs
1 paper
NM_181486.4
p.P35insFs
c.105dupC
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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."