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

2 papers

NM_005996.4

p.A450S

c.1348G>T

Surrounding Variants

1 paper

NM_005996.4

p.A450T

c.1348G>A

1 paper

NM_005996.4

p.E448Q

c.1342G>C

1 paper

NM_005996.4

p.A452T

c.1354G>A

1 paper

NM_005996.4

p.L453fs

c.1357_1358fs

1 paper

NM_005996.4

p.A452_L453delFs

c.1356_1357delGC

1 paper

NM_016569.4

p.A465_K466ins14

c.1393_1397ins42

1 paper

NM_005996.4

p.A443E

c.1328C>A

1 paper

NM_005996.4

p.E440*

c.1318G>T

1 paper

NM_005996.4

p.A460P

c.1378G>C

1 paper

NM_005996.4

p.E440K

c.1318G>A

1 paper

NM_005996.4

p.A460A

c.1380G>T

1 paper

NM_005996.4

p.R439S

c.1315C>A