Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.L141P

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
9 papers
NM_004608.4
p.L141P
c.422T>C
Surrounding Variants
1 paper
NM_004608.4
p.L141L
c.423G>A
3 papers
NM_004608.4
p.D142Y
c.424G>T
5 papers
NM_004608.4
p.L140F
c.418C>T
7 papers
NM_004608.4
p.P145L
c.434C>T
1 paper
NM_004608.4
p.P145P
c.435G>A
2 papers
NM_004608.4
p.D147V
c.440A>T
3 papers
NM_004608.4
p.E134K
c.400G>A
1 paper
NM_004608.4
p.A149V
c.446C>T
1 paper
NM_004608.4
p.R150C
c.448C>T
1 paper
NM_004608.4
p.R150G
c.448C>G
5 papers
NM_004608.4
p.R150H
c.449G>A
1 paper
NM_004608.4
p.G155V
c.464G>T
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