Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.C48fs

TBX6

99 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 93–273UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 6

HGNC Previous Name

T-box 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004608.4
p.C48fs
c.142_143fs
Surrounding Variants
1 paper
NM_004608.4
p.L46_D47insFs
c.138_141dup4
1 paper
NM_004608.4
p.D47Y
c.139G>T
1 paper
NM_004608.4
p.M53fs
c.157_158fs
2 papers
NM_004608.4
p.G52delFs
c.156delC
1 paper
NM_004608.4
p.E40D
c.120A>T
1 paper
NM_004608.4
p.E40Splc
c.119-1G>A
1 paper
NM_004608.4
p.A56V
c.167C>T
1 paper
NM_004608.4
p.R58insFs
c.173_174insA
1 paper
NM_004608.4
p.L69P
c.206T>C
1 paper
NM_004608.4
p.E40Splc
c.118+6C>T
1 paper
NM_004608.4
p.E40Splc
c.118+2T>C
1 paper
NM_004608.4
p.E40Splc
c.118+1G>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."