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.H417R

c.1250A>G

Surrounding Variants

1 paper

NM_005996.4

p.H417insFs

c.1250_1251insT

1 paper

NM_005996.4

p.S415insFs

c.1245dupA

1 paper

NM_005996.4

p.R416fs

c.1246_1247fs

1 paper

NM_005996.4

p.A420S

c.1258G>T

1 paper

NM_016569.4

p.D434insFs

c.1301_1302ins8

1 paper

NM_016569.4

p.T441fs

c.1321_1322fs

2 papers

NM_005996.4

p.A411T

c.1231G>A

1 paper

NM_005996.4

p.D409Y

c.1225G>T

1 paper

NM_005996.4

p.L408P

c.1223T>C

1 paper

NM_005996.4

p.R427G

c.1279C>G

1 paper

NM_005996.4

p.R427H

c.1280G>A

1 paper

NM_005996.4

p.G406W

c.1216G>T