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

4 papers

NM_005996.4

p.S190R

c.570C>A

Surrounding Variants

4 papers

NM_005996.4

p.S190R

c.570C>G

1 paper

NM_005996.4

p.S190I

c.569G>T

1 paper

NM_005996.4

p.P191H

c.572C>A

1 paper

NM_005996.4

p.S190C

c.568A>T

4 papers

NM_005996.4

p.S190R

c.568A>C

1 paper

NM_005996.4

p.A192S

c.574G>T

4 papers

NM_005996.4

p.A192T

c.574G>A

1 paper

NM_005996.4

p.P188L

c.563C>T

1 paper

NM_005996.4

p.P188S

c.562C>T

1 paper

NM_005996.4

p.T193fs

c.577_578fs

2 papers

NM_005996.4

p.H187fs

c.559_560fs

1 paper

NM_005996.4

p.G194W

c.580G>T