Varaico: Literature-Extracted Genetic Variants

TGFBR2

1,068 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand comp...

Pfam Domains

ecTbetaR2aa 14–124UCSCTransforming growth factor beta receptor 2 ectodomain

PK_Tyr_Ser-Thraa 209–503UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

transforming growth factor beta receptor 2

HGNC Previous Symbol

MFS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003242.6

p.S286C

c.857C>G

Surrounding Variants

2 papers

NM_003242.6

p.W287R

c.859T>A

3 papers

NM_003242.6

p.W287R

c.859T>C

1 paper

NM_003242.6

p.A285V

c.854C>T

1 paper

NM_003242.6

p.Y284*

c.852T>A

1 paper

NM_003242.6

p.Y284*

c.852T>G

1 paper

NM_003242.6

p.Y284_A285insAAC

c.850_854ins9

2 papers

NM_003242.6

p.E283G

c.848A>G

1 paper

NM_003242.6

p.E290_K291del2

c.868_872del6

2 papers

NM_003242.6

p.E290K

c.868G>A

3 papers

NM_003242.6

p.K291del1

c.871_873delAAG

2 papers

NM_003242.6

p.E290G

c.869A>G

1 paper

NM_003242.6

p.E282K

c.844G>A