Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.F417insFs

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
5 papers
NM_004608.4
p.F417insFs
c.1250_1251insT
Surrounding Variants
1 paper
NM_004608.4
p.L419fs
c.1255_1256fs
1 paper
NM_004608.4
p.G415insFs
c.1244dupG
1 paper
NM_004608.4
p.Y421H
c.1261T>C
1 paper
NM_004608.4
p.Q413*
c.1237C>T
1 paper
NM_004608.4
p.L412fs
c.1234_1235fs
1 paper
NM_004608.4
p.F411delFs
c.1233delA
4 papers
NM_004608.4
p.P409P
c.1227G>A
1 paper
NM_004608.4
p.A408G
c.1223C>G
1 paper
NM_004608.4
p.G425_L428ins1
c.1275_1283dup9
3 papers
NM_004608.4
p.P434S
c.1300C>T
1 paper
NM_004608.4
p.G394_P399insFs
c.1180_1196dup17
7 papers
NM_004608.4
p.*437C
c.1311A>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."