Varaico: Literature-Extracted Genetic Variants

Gene:TBX6

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
1–12 of 169 variants
9 papers
NM_004608.4
p.L141P
c.422T>C
9 papers
NM_004608.4
p.G162S
c.484G>A
9 papers
NM_004608.4
p.W233C
c.699G>C
8 papers
NM_004608.4
p.R119H
c.356G>A
8 papers
NM_004608.4
p.W233C
c.699G>T
7 papers
NM_004608.4
p.P145L
c.434C>T
7 papers
NM_004608.4
p.H221N
c.661C>A
7 papers
NM_004608.4
p.*437C
c.1311A>T
6 papers
NM_004608.4
p.R272Q
c.815G>A
6 papers
NM_004608.4
p.S393_G394delFs
c.1179_1180delCT
5 papers
NM_004608.4
p.P89insFs
c.266_267insC
5 papers
NM_004608.4
p.L140F
c.418C>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."