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

Selected Variant

1 paper

NM_005994.4

p.G56D

c.167G>A

Surrounding Variants

1 paper

NM_005994.4

p.P55Q

c.164C>A

2 papers

NM_005994.4

p.A63del1

c.187_188delGCG

1 paper

NM_005994.4

p.A66V

c.197C>T

1 paper

NM_005994.4

p.P44Q

c.131C>A

1 paper

NM_005994.4

p.P44L

c.131C>T

1 paper

NM_005994.4

p.A71del1

c.211_212delGCC

1 paper

NM_005994.4

p.A40T

c.118G>A

1 paper

NM_005994.4

p.A40P

c.118G>C

1 paper

NM_005994.4

p.Q34*

c.100C>T

1 paper

NM_005994.4

p.A31V

c.92C>T

1 paper

NM_005994.4

p.L30insFs

c.89_90ins7

6 papers

NM_005994.4

p.R20Q

c.59G>A