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

7 papers

NM_005996.4

p.R619delFs

c.1857delG

Surrounding Variants

1 paper

NM_005996.4

p.P622L

c.1865C>T

1 paper

NM_005996.4

p.V629insFs

c.1885_1886insGA

1 paper

NM_005996.4

p.V629delFs

c.1887delG

1 paper

NM_005996.4

p.P607_F608insA

c.1819_1823ins3

1 paper

NM_005996.4

p.R605insFs

c.1814dupG

2 papers

NM_005996.4

p.H604delFs

c.1812delG

1 paper

NM_005996.4

p.L635L

c.1903C>T

1 paper

NM_005996.4

p.L635V

c.1903C>G

1 paper

NM_005996.4

p.V603A

c.1808T>C

1 paper

NM_005996.4

p.S602delFs

c.1805delG

1 paper

NM_005996.4

p.L635_T637del3

c.1903_1910del9

1 paper

NM_005996.4

p.T638N

c.1913C>A