Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.R119H

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
8 papers
NM_004608.4
p.R119H
c.356G>A
Surrounding Variants
1 paper
NM_004608.4
p.M120V
c.358A>G
1 paper
NM_004608.4
p.R118W
c.352A>T
1 paper
NM_004608.4
p.F121L
c.361T>C
1 paper
NM_004608.4
p.F121L
c.363C>G
1 paper
NM_004608.4
p.F121L
c.363C>A
3 papers
NM_004608.4
p.E134K
c.400G>A
5 papers
NM_004608.4
p.L140F
c.418C>T
9 papers
NM_004608.4
p.L141P
c.422T>C
1 paper
NM_004608.4
p.L141L
c.423G>A
3 papers
NM_004608.4
p.D142Y
c.424G>T
7 papers
NM_004608.4
p.P145L
c.434C>T
1 paper
NM_004608.4
p.P145P
c.435G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."