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

1 paper

NM_005996.4

p.L473fs

c.1417_1418fs

Surrounding Variants

3 papers

NM_005996.4

p.L473fs

c.1417_1418fs

1 paper

NM_005996.4

p.A471V

c.1412C>T

1 paper

NM_005996.4

p.A471E

c.1412C>A

3 papers

NM_005996.4

p.Q475*

c.1423C>T

1 paper

NM_005996.4

p.A470V

c.1409C>T

1 paper

NM_005996.4

p.A469T

c.1405G>A

1 paper

NM_005996.4

p.T466T

c.1398G>T

1 paper

NM_005996.4

p.G480C

c.1438G>T

1 paper

NM_005996.4

p.G480R

c.1438G>C

1 paper

NM_005996.4

p.Q465_T466ins14

c.1393_1397ins42

1 paper

NM_005996.4

p.F483fs

c.1447_1448fs

1 paper

NM_005996.4

p.P461Q

c.1382C>A