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.L207fs

c.619_620fs

Surrounding Variants

1 paper

NM_005996.4

p.L207P

c.620T>C

1 paper

NM_005996.4

p.L207L

c.619C>T

1 paper

NM_005996.4

p.L209H

c.626T>A

1 paper

NM_005996.4

p.H205Y

c.613C>T

2 papers

NM_005996.4

p.T210insFs

c.628dupA

1 paper

NM_005996.4

p.T210N

c.629C>A

2 papers

NM_005996.4

p.T210fs

c.628_629fs

1 paper

NM_005996.4

p.F204S

c.611T>C

4 papers

NM_005996.4

p.N211T

c.632A>C

1 paper

NM_005996.4

p.N211delins

c.631_632delinsCT

1 paper

NM_005996.4

p.T210_N211del1

c.629_631delTGG

1 paper

NM_005996.4

p.T203fs

c.607_608fs