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.A529insFs

c.1586_1587insAC

Surrounding Variants

2 papers

NM_005996.4

p.A529insFs

c.1586_1587insC

1 paper

NM_005996.4

p.A529delFs

c.1586delG

1 paper

NM_005996.4

p.G528E

c.1583G>A

1 paper

NM_005996.4

p.V526delFs

c.1576delC

1 paper

NM_005996.4

p.V533V

c.1599C>A

1 paper

NM_005996.4

p.A524insFs

c.1571_1572insA

1 paper

NM_005996.4

p.L536R

c.1607T>G

1 paper

NM_005996.4

p.L522I

c.1564C>A

1 paper

NM_005996.4

p.G520_P521insFs

c.1560_1561ins4

1 paper

NM_005996.4

p.G520fs

c.1558_1559fs

1 paper

NM_005996.4

p.T539M

c.1616C>T

1 paper

NM_005996.4

p.T539T

c.1617G>A