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

14 papers

NM_005996.4

p.L143P

c.428T>C

Surrounding Variants

1 paper

NM_005996.4

p.L143insFs

c.427_428insC

1 paper

NM_005996.4

p.D144H

c.430G>C

1 paper

NM_005996.4

p.D144N

c.430G>A

1 paper

NM_005996.4

p.S141fs

c.421_422fs

1 paper

NM_005996.4

p.C140S

c.419G>C

1 paper

NM_005996.4

p.C140S

c.418T>A

1 paper

NM_005996.4

p.K146delFs

c.438delT

1 paper

NM_005996.4

p.R139K

c.416G>A

1 paper

NM_005996.4

p.R139*

c.415A>T

1 paper

NM_005996.4

p.V138G

c.413T>G

2 papers

NM_005996.4

p.K137N

c.411A>T

1 paper

NM_005996.4

p.K137fs

c.409_410fs