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.Q570fs

c.1708_1709fs

Surrounding Variants

1 paper

NM_005996.4

p.S569_Q570delFs

c.1707_1708delGA

3 papers

NM_005996.4

p.Q570_G571Splc

c.1710+2T>A

1 paper

NM_005996.4

p.Q570*

c.1708C>T

1 paper

NM_005996.4

p.P559H

c.1676C>A

1 paper

NM_005996.4

p.P559A

c.1675C>G

1 paper

NM_005996.4

p.A556T

c.1666G>A

1 paper

NM_005996.4

p.S554fs

c.1660_1661fs

1 paper

NM_005996.4

p.A553insFs

c.1658_1659dupCG

2 papers

NM_005996.4

p.G552R

c.1654G>A

1 paper

NM_005996.4

p.A547insFs

c.1639dupG

4 papers

NM_016569.4

p.A562V

c.1685C>T

NM_005996.4

p.A542V

c.1625C>T

1 paper

NM_005996.4

p.T539T

c.1617G>A