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.S214*

c.641C>A

Surrounding Variants

1 paper

NM_005996.4

p.S214*

c.641C>G

1 paper

NM_005996.4

p.S214T

c.640T>A

5 papers

NM_005996.4

p.N212_I213del1

c.635_637delTGT

2 papers

NM_005996.4

p.N212I

c.635A>T

4 papers

NM_005996.4

p.N211T

c.632A>C

1 paper

NM_005996.4

p.N211delins

c.631_632delinsCT

1 paper

NM_005996.4

p.T210_N211del1

c.629_631delTGG

1 paper

NM_005996.4

p.G218R

c.652G>C

1 paper

NM_005996.4

p.G218R

c.652G>A

2 papers

NM_005996.4

p.T210fs

c.628_629fs

1 paper

NM_005996.4

p.G218E

c.653G>A

2 papers

NM_005996.4

p.T210insFs

c.628dupA