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.G650V

c.1949G>T

Surrounding Variants

1 paper

NM_005994.4

p.A669delFs

c.2005_2006delGC

1 paper

NM_005994.4

p.A669fs

c.2005_2006fs

1 paper

NM_005994.4

p.A669delFs

c.2006delC

1 paper

NM_005994.4

p.P677L

c.2030C>T

2 papers

NM_005994.4

p.R620C

c.1858C>T

3 papers

NM_005994.4

p.R616Q

c.1847G>A

1 paper

NM_005994.4

p.Q689E

c.2065C>G

2 papers

NM_005994.4

p.S609R

c.1827C>A

2 papers

NM_005994.4

p.S609R

c.1827C>G

2 papers

NM_005994.4

p.S609R

c.1825A>C

1 paper

NM_005994.4

p.R608Q

c.1823G>A

2 papers

NM_005994.4

p.R608W

c.1822C>T