Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.L210L

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.L210L
c.630G>C
Surrounding Variants
3 papers
NM_004608.4
p.H207_L208Splc
c.622-2A>T
1 paper
NM_004608.4
p.Q217insFs
c.649dupC
1 paper
NM_004608.4
p.Q217delFs
c.649delG
7 papers
NM_004608.4
p.H221N
c.661C>A
1 paper
NM_004608.4
p.H221R
c.662A>G
1 paper
NM_004608.4
p.R224G
c.670C>G
2 papers
NM_004608.4
p.R224Q
c.671G>A
2 papers
NM_004608.4
p.W233*
c.698G>A
8 papers
NM_004608.4
p.W233C
c.699G>T
9 papers
NM_004608.4
p.W233C
c.699G>C
3 papers
NM_004608.4
p.W233*
c.699G>A
3 papers
NM_004608.4
p.G234R
c.700G>C
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."