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

10 papers

NM_005996.4

p.Y149S

c.446A>C

Surrounding Variants

1 paper

NM_005996.4

p.Y149C

c.446A>G

1 paper

NM_005996.4

p.Y149fs

c.445_446fs

2 papers

NM_005996.4

p.I150V

c.448A>G

1 paper

NM_005996.4

p.L151*

c.452T>A

1 paper

NM_005996.4

p.K146delFs

c.438delT

1 paper

NM_005996.4

p.Y149_L151del0

c.447_452del6

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.L152_M153del2

c.454_458del6

1 paper

NM_005996.4

p.D154G

c.461A>G

1 paper

NM_005996.4

p.D144H

c.430G>C