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.R550M

c.1649G>T

Surrounding Variants

1 paper

NM_003242.6

p.G549R

c.1645G>A

3 papers

NM_003242.6

p.G549W

c.1645G>T

1 paper

NM_001024847.3

p.S573L

c.1718C>T

1 paper

NM_003242.6

p.S548fs

c.1642_1643fs

12 papers

NM_003242.6

p.S553T

c.1657T>A

NM_001024847.3

p.S578T

c.1732T>A

1 paper

NM_003242.6

p.S553*

c.1658C>A

1 paper

NM_003242.6

p.S553L

c.1658C>T

2 papers

NM_003242.6

p.R546R

c.1638G>A

1 paper

NM_003242.6

p.E554K

c.1660G>A

1 paper

NM_003242.6

p.R546_L547insFs

c.1638_1639ins4

1 paper

NM_003242.6

p.R546K

c.1637G>A

1 paper

NM_001024847.3

p.D570E

c.1710C>A