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.Y163insFs

c.487_488insT

Surrounding Variants

1 paper

NM_005996.4

p.Y163fs

c.487_488fs

2 papers

NM_005996.4

p.Y163*

c.489T>G

3 papers

NM_005996.4

p.Y163*

c.489T>A

1 paper

NM_005996.4

p.R162H

c.485G>A

1 paper

NM_005996.4

p.K164I

c.491A>T

2 papers

NM_005996.4

p.K164T

c.491A>C

3 papers

NM_005996.4

p.R162C

c.484C>T

1 paper

NM_005996.4

p.R162G

c.484C>G

1 paper

NM_005996.4

p.C161fs

c.481_482fs

1 paper

NM_005996.4

p.F165I

c.493T>A

1 paper

NM_005996.4

p.K164_F165del2

c.490_494del6

1 paper

NM_005996.4

p.D160Y

c.478G>T