Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.S383*

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
3 papers
NM_004608.4
p.S383*
c.1148C>A
Surrounding Variants
1 paper
NM_004608.4
p.S383L
c.1148C>T
1 paper
NM_004608.4
p.Y382*
c.1146C>G
2 papers
NM_004608.4
p.Y382*
c.1146C>A
1 paper
NM_004608.4
p.P381delFs
c.1143delG
1 paper
NM_004608.4
p.R378fs
c.1132_1133fs
1 paper
NM_004608.4
p.R378H
c.1133G>A
1 paper
NM_004608.4
p.E372_G377insFs
c.1115_1130dup16
1 paper
NM_004608.4
p.G377R
c.1129G>C
2 papers
NM_004608.4
p.G377R
c.1129G>A
5 papers
NM_004608.4
p.P390insFs
c.1169_1170insC
1 paper
NM_004608.4
p.H391fs
c.1171_1172fs
3 papers
NM_004608.4
p.P374delFs
c.1121_1122delTG
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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."