Varaico: Literature-Extracted Genetic Variants

TBX3

373 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 105–305UCSCT-box

TBX2-3_TADaa 323–407UCSCT-box transcription factor 2/3, TAD domain

TBX2-3_RDaa 552–660UCSCT-box transcription factor 2/3, repressor domain

Gene Aliases

HGNC Name

T-box transcription factor 3

HGNC Previous Symbol

UMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005996.4

p.S683C

c.2048C>G

Surrounding Variants

1 paper

NM_005996.4

p.M684L

c.2050A>T

1 paper

NM_005996.4

p.M684L

c.2050A>C

1 paper

NM_005996.4

p.T678insFs

c.2032_2033insC

1 paper

NM_005996.4

p.L690L

c.2070C>G

1 paper

NM_005996.4

p.N673fs

c.2017_2018fs

1 paper

NM_005996.4

p.E693D

c.2079G>T

1 paper

NM_005996.4

p.E693D

c.2079G>C

1 paper

NM_005996.4

p.E671*

c.2011G>T

2 papers

NM_005996.4

p.A696V

c.2087C>T

2 papers

NM_005996.4

p.V664_G669del0

c.1991_2005del15

1 paper

NM_005996.4

p.G669S

c.2005G>A

1 paper

NM_005996.4

p.D667_S668ins5

c.1999_2003ins15