Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.V249L

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.V249L
c.745G>T
Surrounding Variants
1 paper
NM_004608.4
p.V249L
c.745G>C
3 papers
NM_004608.4
p.V249M
c.745G>A
1 paper
NM_004608.4
p.A251T
c.751G>A
1 paper
NM_004608.4
p.F246S
c.737T>C
1 paper
NM_004608.4
p.R240C
c.718C>T
1 paper
NM_004608.4
p.M236fs
c.706_707fs
5 papers
NM_004608.4
p.G235insFs
c.704_705insG
3 papers
NM_004608.4
p.G234R
c.700G>C
2 papers
NM_004608.4
p.G234R
c.700G>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
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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."