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.T638N

c.1913C>A

Surrounding Variants

1 paper

NM_005996.4

p.L635_T637del3

c.1903_1910del9

1 paper

NM_005996.4

p.A639T

c.1915G>A

1 paper

NM_005996.4

p.P641fs

c.1921_1922fs

3 papers

NM_005996.4

p.L640_P641insFs

c.1920_1921dupGC

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.S642F

c.1925C>T

1 paper

NM_005996.4

p.V629delFs

c.1887delG

1 paper

NM_005996.4

p.A646V

c.1937C>T

1 paper

NM_005996.4

p.A646delFs

c.1938delG

1 paper

NM_005996.4

p.V629insFs

c.1885_1886insGA

1 paper

NM_005996.4

p.A647_G648insFs

c.1941_1942insTG