Varaico: Literature-Extracted Genetic Variants

TBX2

119 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 107–287UCSCT-box

TBX2-3_TADaa 305–384UCSCT-box transcription factor 2/3, TAD domain

TBX2-3_RDaa 525–641UCSCT-box transcription factor 2/3, repressor domain

Gene Aliases

HGNC Name

T-box transcription factor 2

HGNC Previous Name

T-box 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 105 variants

6 papers

NM_005994.4

p.R20Q

c.59G>A

3 papers

NM_005994.4

p.R305H

c.914G>A

3 papers

NM_005994.4

p.R616Q

c.1847G>A

2 papers

NM_005994.4

p.P4L

c.11C>T

2 papers

NM_005994.4

p.A63del1

c.187_188delGCG

2 papers

NM_005994.4

p.K177*

c.529A>T

2 papers

NM_005994.4

p.N214S

c.641A>G

2 papers

NM_005994.4

p.G220S

c.658G>A

2 papers

NM_005994.4

p.T300M

c.899C>T

2 papers

NM_005994.4

p.D326delFs

c.977delA

2 papers

NM_005994.4

p.D326fs

c.976_977fs

2 papers

NM_005994.4

p.P329delFs

c.987delC