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.R291insFs

c.872dupG

Surrounding Variants

1 paper

NM_005996.4

p.E292K

c.874G>A

1 paper

NM_005996.4

p.R291G

c.871A>G

1 paper

NM_005996.4

p.R291insFs

c.871_872insTC

2 papers

NM_005996.4

p.R290Q

c.869G>A

1 paper

NM_005996.4

p.R294insFs

c.880dupA

1 paper

NM_005996.4

p.R294Splc

c.881+1G>T

1 paper

NM_005996.4

p.G287E

c.860G>A

1 paper

NM_005996.4

p.T286fs

c.856_857fs

1 paper

NM_005996.4

p.R284_D285insTCA

c.850_854ins9

2 papers

NM_005996.4

p.G282C

c.844G>T

2 papers

NM_005996.4

p.A280S

c.838G>T

2 papers

NM_005996.4

p.N277S

c.830A>G