Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.Q49_G50Splc

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.Q49_G50Splc
c.148-28T>C
Surrounding Variants
1 paper
NM_181486.4
p.Q49_G50Splc
c.148-23T>C
1 paper
NM_181486.4
p.Q49_G50Splc
c.148-9T>C
2 papers
NM_181486.4
p.Q49_G50Splc
c.148-3C>A
1 paper
NM_181486.4
p.Q49_G50Splc
c.148-2A>G
1 paper
NM_181486.4
p.Q49_G50Splc
c.148-2A>C
3 papers
NM_181486.4
p.Q49_G50Splc
c.148-1G>C
18 papers
NM_181486.4
p.I54T
c.161T>C
1 paper
NM_181486.4
p.K55K
c.165A>G
1 paper
NM_181486.4
p.V56delFs
c.166delC
1 paper
NM_181486.4
p.L58P
c.173T>C
1 paper
NM_181486.4
p.Q49_G50Splc
c.148-87G>A
1 paper
NM_181486.4
p.R61S
c.183A>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."