Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.N163N

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.N163N
c.489C>T
Surrounding Variants
1 paper
NM_181486.4
p.N162delFs
c.486delG
1 paper
NM_181486.4
p.N162fs
c.484_485fs
1 paper
NM_181486.4
p.K159_L160ins0
c.475_480dup6
1 paper
NM_181486.4
p.D166G
c.497A>G
2 papers
NM_181486.4
p.T161P
c.481A>C
1 paper
NM_181486.4
p.D166delFs
c.496delC
1 paper
NM_181486.4
p.P167T
c.499C>A
1 paper
NM_181486.4
p.L160F
c.478C>T
1 paper
NM_181486.4
p.P167delFs
c.500delG
1 paper
NM_181486.4
p.F168fs
c.502_503fs
1 paper
NM_181486.4
p.F168insFs
c.504dupT
19 papers
NM_181486.4
p.G169R
c.505G>C
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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."