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.A176delFs

c.526delC

Surrounding Variants

1 paper

NM_005996.4

p.A176fs

c.526_527fs

2 papers

NM_005996.4

p.K175fs

c.523_524fs

1 paper

NM_005996.4

p.P178H

c.533C>A

1 paper

NM_005996.4

p.G174S

c.520G>A

1 paper

NM_005996.4

p.E179*

c.535G>T

3 papers

NM_005996.4

p.E179K

c.535G>A

1 paper

NM_005996.4

p.P181S

c.541C>T

1 paper

NM_005996.4

p.M171insFs

c.512_513insGC

1 paper

NM_005996.4

p.P181L

c.542C>T

1 paper

NM_005996.4

p.W170fs

c.508_509fs

1 paper

NM_005996.4

p.W170*

c.510G>A

1 paper

NM_005996.4

p.W170*

c.509G>A