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.P607_F608insA

c.1819_1823ins3

Surrounding Variants

1 paper

NM_005996.4

p.R605insFs

c.1814dupG

2 papers

NM_005996.4

p.H604delFs

c.1812delG

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.S601I

c.1802G>T

1 paper

NM_016569.4

p.A619delFs

c.1857delG

1 paper

NM_005996.4

p.A598T

c.1792G>A

1 paper

NM_005996.4

p.A597T

c.1789G>A

1 paper

NM_005996.4

p.S595F

c.1784C>T

1 paper

NM_016569.4

p.S615A

c.1843T>G

7 papers

NM_005996.4

p.R619delFs

c.1857delG

1 paper

NM_005996.4

p.A593P

c.1777G>C