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.G529insFs

c.1586_1587insC

Surrounding Variants

2 papers

NM_005996.4

p.G509fs

c.1525_1526fs

1 paper

NM_005996.4

p.A510T

c.1528G>A

1 paper

NM_016569.4

p.P522H

c.1565C>A

1 paper

NM_005996.4

p.H501Y

c.1501C>T

1 paper

NM_005996.4

p.H501fs

c.1501_1502fs

1 paper

NM_005996.4

p.L500_H501insFs

c.1500_1501ins4

1 paper

NM_005996.4

p.G520fs

c.1558_1559fs

5 papers

NM_005996.4

p.L498fs

c.1492_1493fs

1 paper

NM_005996.4

p.L498insFs

c.1492_1493insCC

2 papers

NM_005996.4

p.L498delFs

c.1492delG

1 paper

NM_005996.4

p.G520_P521insFs

c.1560_1561ins4

1 paper

NM_005996.4

p.L498fs

c.1492_1493fs