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

2 papers

NM_005994.4

p.G220S

c.658G>A

Surrounding Variants

1 paper

NM_005994.4

p.F221_T222Splc

c.663+1G>C

2 papers

NM_005994.4

p.N214S

c.641A>G

1 paper

NM_005994.4

p.A201_P203del3

c.601_608del9

1 paper

NM_005994.4

p.S192S

c.576C>T

1 paper

NM_005994.4

p.M186I

c.558G>A

1 paper

NM_005994.4

p.M186I

c.558G>C

1 paper

NM_005994.4

p.M186I

c.558G>T

1 paper

NM_005994.4

p.E181E

c.543G>A

2 papers

NM_005994.4

p.K177*

c.529A>T

1 paper

NM_005994.4

p.N169I

c.506A>T

1 paper

NM_005994.4

p.F167L

c.501C>A

1 paper

NM_005994.4

p.F167L

c.501C>G