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

1–12 of 542 variants

14 papers

NM_005996.4

p.L143P

c.428T>C

10 papers

NM_005996.4

p.Y149S

c.446A>C

7 papers

NM_005996.4

p.R619delFs

c.1857delG

5 papers

NM_005996.4

p.H187Y

c.559C>T

5 papers

NM_005996.4

p.N212_I213del1

c.635_637delTGT

5 papers

NM_005996.4

p.L498fs

c.1492_1493fs

4 papers

NM_005996.4

p.S190R

c.568A>C

4 papers

NM_005996.4

p.S190R

c.570C>G

4 papers

NM_005996.4

p.S190R

c.570C>A

4 papers

NM_005996.4

p.A192T

c.574G>A

4 papers

NM_005996.4

p.N211T

c.632A>C

4 papers

NM_005996.4

p.K273*

c.817A>T