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.I155_I156insFs

c.465_466ins14

Surrounding Variants

1 paper

NM_005996.4

p.I156T

c.467T>C

2 papers

NM_005996.4

p.I155S

c.464T>G

1 paper

NM_005996.4

p.A158D

c.473C>A

1 paper

NM_005996.4

p.D154G

c.461A>G

1 paper

NM_005996.4

p.L152_M153del2

c.454_458del6

2 papers

NM_005996.4

p.M153I

c.459G>T

2 papers

NM_005996.4

p.M153I

c.459G>C

2 papers

NM_005996.4

p.M153I

c.459G>A

1 paper

NM_005996.4

p.D160Y

c.478G>T

1 paper

NM_005996.4

p.C161fs

c.481_482fs

1 paper

NM_005996.4

p.Y149_L151del0

c.447_452del6

1 paper

NM_005996.4

p.L151*

c.452T>A