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.R169R

c.505C>A

Surrounding Variants

1 paper

NM_005996.4

p.R169W

c.505C>T

2 papers

NM_005996.4

p.R169Q

c.506G>A

1 paper

NM_005996.4

p.R169delFs

c.507delC

1 paper

NM_005996.4

p.W170*

c.509G>A

1 paper

NM_005996.4

p.W170fs

c.508_509fs

1 paper

NM_005996.4

p.W170*

c.510G>A

2 papers

NM_005996.4

p.N167S

c.500A>G

1 paper

NM_005996.4

p.M171insFs

c.512_513insGC

1 paper

NM_005996.4

p.H166fs

c.496_497fs

1 paper

NM_005996.4

p.K164_F165del2

c.490_494del6

1 paper

NM_005996.4

p.F165I

c.493T>A

1 paper

NM_005996.4

p.K164I

c.491A>T