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_016569.4

p.E374fs

c.1120_1121fs

Surrounding Variants

1 paper

NM_005996.4

p.D356N

c.1066G>A

1 paper

NM_005996.4

p.D356_A357insFs

c.1068_1069insC

1 paper

NM_005996.4

p.A357A

c.1071C>T

1 paper

NM_005996.4

p.A357fs

c.1069_1070fs

1 paper

NM_005996.4

p.E360D

c.1080G>T

1 paper

NM_005996.4

p.E360D

c.1080G>C

1 paper

NM_005996.4

p.L348fs

c.1042_1043fs

1 paper

NM_005996.4

p.L348delFs

c.1043delA

1 paper

NM_005996.4

p.S361fs

c.1081_1082fs

1 paper

NM_005996.4

p.E360insFs

c.1079_1080ins17

2 papers

NM_005996.4

p.E364*

c.1090G>T

1 paper

NM_005996.4

p.E368E

c.1104G>A