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.P485_A488insFs

c.1454_1463dup10

Surrounding Variants

1 paper

NM_005996.4

p.A488E

c.1463C>A

1 paper

NM_005996.4

p.L487_A488insT

c.1459_1463ins3

1 paper

NM_005996.4

p.Q490_Q491delins

c.1470_1471delinsTT

1 paper

NM_005996.4

p.P485P

c.1455G>C

1 paper

NM_005996.4

p.F492_F493delins

c.1475_1478delinsCCCA

1 paper

NM_005996.4

p.F483fs

c.1447_1448fs

1 paper

NM_005996.4

p.P497S

c.1489C>T

1 paper

NM_005996.4

p.P497A

c.1489C>G

1 paper

NM_005996.4

p.G480C

c.1438G>T

1 paper

NM_005996.4

p.G480R

c.1438G>C

1 paper

NM_005996.4

p.L498fs

c.1492_1493fs

1 paper

NM_005996.4

p.L498insFs

c.1492_1493insCC